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The following items were compiled from MEDLINE using SilverPlatter and are presented with the latter organization's generous co-operation and permission. (See SilverPlatter's Worldwide Library for bibliographic search information.)Sotos syndrome -- infantile (cerebral) giantism -- is a pre- and post-natal condition of in which a child's head and muscles grow at abnormally rapid rates and become unusually large. The cause is unknown.
TITLE: Tumors and nontumors in Sotos syndrome [letter]
AUTHOR(S): Cohen-MM Jr
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 May 21; 84(2): 173-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Diagnosis,-Differential; Infant-; Nevus-diagnosis; Syndrome-
MAJOR MeSH HEADINGS: *Growth-Disorders-diagnosis; *Neoplasms-diagnosis
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 1999255346
UPDATE CODE: 199909
Record 2 of 41 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Congenital heart defects in Sotos syndrome [letter]
AUTHOR(S): Tsukahara-M; Murakami-K; Iino-H; Tateishi-H; Fujita-K; Uchida-M
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 May 21; 84(2): 172
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Japan-; Syndrome-
MAJOR MeSH HEADINGS: *Growth-Disorders-genetics; *Heart-Defects,-Congenital-genetics
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 1999255345
UPDATE CODE: 199909
Record 3 of 41 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Testicular yolk sac tumour in a patient with Sotos syndrome.
AUTHOR(S): Muraishi-O; Kumamaru-T; Nozaki-Y; Mori-Y; Tokue-A
ADDRESS OF AUTHOR: Department of Urology, Jichi Medical School, Tochigi, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): BJU-Int. 1999 Feb; 83(3): 357-8
INTERNATIONAL STANDARD SERIAL NUMBER: 1464-4096
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Infant-; Phenotype-; Syndrome-
MAJOR MeSH HEADINGS: *Brain-Diseases-pathology; *Endodermal-Sinus-Tumor-pathology; *Gigantism-pathology; *Testicular-Neoplasms-pathology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1999252406
UPDATE CODE: 199908
Record 4 of 41 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Identical twins discordant for Sotos syndrome.
AUTHOR(S): Brown-WT; Wisniewski-KE; Sudhalter-V; Keogh-M; Tsiouris-J; Miezejeski-C; Schaefer-GB
ADDRESS OF AUTHOR: Department of Human Genetics, New York State Institute for Basic Research, Staten Island 11050, USA. wibibr@aol.com
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1998 Oct 2; 79(4): 329-33
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The cause of Sotos syndrome is unknown but it usually occurs sporadically. Recent studies have shown no evidence of uniparental disomy. One set of concordant monozygotic twins has been reported. We have identified the Sotos syndrome in one of two 5-year-old male monozygotic twins. Our finding of discordance in these identical twins suggests that a postconceptual mutation, or epigenetic change and/or an environmental factor may be involved in the cause of Sotos syndrome.
MINOR MESH HEADINGS: Child,-Preschool; Growth-Disorders-diagnosis; Oligohydramnios-diagnosis; Physiognomy-; Syndrome-; Twins,-Monozygotic
MAJOR MeSH HEADINGS: *Diseases-in-Twins-genetics; *Growth-Disorders-genetics
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1998453177
UPDATE CODE: 199908
Record 5 of 41 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Congenital heart defects in Sotos syndrome.
AUTHOR(S): Noreau-DR; Al-Ata-J; Jutras-L; Teebi-AS
ADDRESS OF AUTHOR: Division of Medical Genetics, Montreal Children's Hospital, McGill University, Quebec, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1998 Oct 2; 79(4): 327-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Sotos syndrome is a relatively common overgrowth syndrome with characteristic physiognomy. We report on 3 patients with congenital heart defects out of 14 Sotos syndrome patients studied clinically and or by echocardiography. Review showed another 17 patients with variable cardiac defects, mostly closure defects, making an overall incidence of approximately 8%.
MINOR MESH HEADINGS: Adolescence-; Child-; Child,-Preschool; Growth-Disorders-complications; Heart-Defects,-Congenital-complications; Infant-; Physiognomy-; Syndrome-
MAJOR MeSH HEADINGS: *Growth-Disorders-pathology; *Heart-Defects,-Congenital-pathology
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1998453176
UPDATE CODE: 199908
Record 6 of 41 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: The syndromes of Sotos and Weaver: reports and review.
AUTHOR(S): Opitz-JM; Weaver-DW; Reynolds-JF Jr
ADDRESS OF AUTHOR: Department of Pediatrics, University of Utah, Salt Lake City, USA. AJMG@hsc.utah.edu
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1998 Oct 2; 79(4): 294-304
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The syndromes of Sotos and Weaver are paradigmatic of the daily nosologic difficulties faced by clinical geneticists attempting to diagnose and counsel, and to give accurate prognoses in cases of extensive phenotypic overlap between molecularly undefined entities. Vertebrate development is constrained into only very few final or common developmental paths; therefore, no developmental anomaly seen in humans is unique to ("pathognomonic" of) one syndrome. Thus, it is not surprising that prenatal overgrowth occurs in several syndromes, including the Sotos and Weaver syndromes. Are they sufficiently different in other respects to allow the postulation of locus (rather than allele) heterogeneity? Phenotypic data in both conditions are biased because of ascertainment of propositi, and the apparent differences between them may be entirely artificial as they were between the G and BBB syndromes. On the other hand, the Sotos syndrome may be a cancer syndrome, the Weaver syndrome not (though a neuroblastoma was reported in the latter); in the former there is also remarkably advanced dental maturation rarely commented on in the latter. In Weaver syndrome there are more conspicuous contractures and a facial appearance that experts find convincingly different from that of Sotos individuals. Nevertheless, the hypothesis of locus heterogeneity is testable; at the moment we are inclined to favor the hypothesis of allele heterogeneity. An international effort is required to map, isolate, and sequence the causal gene or genes.
MINOR MESH HEADINGS: Fetal-Macrosomia-diagnosis; Fetal-Macrosomia-genetics; Fetal-Macrosomia-pathology; Genes,-Dominant; Genetic-Counseling; Growth-Disorders-diagnosis; Growth-Disorders-genetics; Growth-Disorders-pathology; Infant-; Syndrome-
MAJOR MeSH HEADINGS: *Brain-abnormalities
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 1998453172
UPDATE CODE: 199908
Record 7 of 41 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Cloning and chromosomal mapping of the human gene of neuroglycan C (NGC), a neural transmembrane chondroitin sulfate proteoglycan with an EGF module.
AUTHOR(S): Yasuda-Y; Tokita-Y; Aono-S; Matsui-F; Ono-T; Sonta-S; Watanabe-E; Nakanishi-Y; Oohira-A
ADDRESS OF AUTHOR: Department of Perinatology, Institute for Developmental Research, Kasugai, Aichi, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Neurosci-Res. 1998 Dec; 32(4): 313-22
INTERNATIONAL STANDARD SERIAL NUMBER: 0168-0102
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: IRELAND
ABSTRACT: Neuroglycan C (NGC) is a 150 kDa transmembrane chondroitin sulfate proteoglycan with a 120 kDa core glycoprotein that was originally isolated from the developing rat brain. A rabbit antiserum, raised against a recombinant polypeptide representing a protein of the rat NGC core protein, recognized an NGC homolog in homogenates of brains of various vertebrates including humans. Because of the possible involvement of this proteoglycan in the etiology of a human neuronal disease, we cloned a complete coding sequence from a human brain cDNA library using a rat NGC cDNA as a probe. The predicted protein contains 539 amino acids and shows 86% homology with the rat counterpart. The domain structure characteristic of rat NGC was completely conserved in human NGC, which consisted of an N-terminal signal sequence, a chondroitin sulfate-attachment domain, an acidic amino acid cluster, an EGF-like domain, a transmembrane domain and a cytoplasmic tail. Northern blot analysis revealed that a single transcript of 2.4 kb was detectable in the brain, but not in other human tissues. By fluorescence in situ hybridization (FISH) analysis, the human NGC gene was assigned to the chromosomal 3p21.3 band, where the Sotos syndrome has been mapped. Involvement of the NGC gene in the etiology of the Sotos syndrome remains to be examined.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Central-Nervous-System-Diseases-genetics; Cerebral-Cortex; Chick-Embryo; Chromosome-Mapping-methods; Mice-; Molecular-Sequence-Data; Rabbits-; Rats-
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-3-genetics; *Proteochondroitin-Sulfates-genetics
CHECKTAGS: Animal; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Proteochondroitin-Sulfates
MEDLINE ACCESSION NUMBER: 1999133557
UPDATE CODE: 199907
Record 8 of 41 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Sotos syndrome and cutis laxa.
AUTHOR(S): Robertson-SP; Bankier-A
ADDRESS OF AUTHOR: Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Victoria, Australia.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1999 Jan; 36(1): 51-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Characteristics suggestive of connective tissue dysfunction have been described in Sotos syndrome and include joint hyperextensibility, pes planus, and a high arched palate. A variety of cutis laxa syndromes have also been described, some of them exhibiting mental retardation, but no reports have drawn an association with overgrowth or abnormal facies characteristic of Sotos syndrome. We report three patients with the anthropometric and dysmorphological appearance of classical Sotos syndrome in association with redundant skin folds, joint hypermobility, and, in two of the three, vesicoureteric reflux suggestive of a coexisting connective tissue disorder. All of the patients had a normal bone age suggesting that Sotos syndrome in its classically described form was not present and that this entity possibly reflects a related, perhaps allelic, condition.
MINOR MESH HEADINGS: Adolescence-; Age-Determination-by-Skeleton; Child-; Facies-; Gigantism-genetics; Phenotype-; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Cutis-Laxa-diagnosis; *Cutis-Laxa-genetics
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1999133865
UPDATE CODE: 199906
Record 9 of 41 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Accelerated linear growth and advanced bone age in Sotos syndrome is not associated with abnormalities of collagen metabolism.
AUTHOR(S): Rao-VH; Buehler-BA; Schaefer-GB
ADDRESS OF AUTHOR: Matrix Research Laboratory, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha 68198, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Biochem. 1998 Jun; 31(4): 241-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9120
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVES: To investigate whether the advanced bone age in Sotos syndrome is associated with alterations in type I collagen metabolism in bone. DESIGN AND METHODS: The metabolism of collagen was studied by analyzing the production, gene expression and degradation of type I collagen in dermal fibroblast strains from patients with Sotos syndrome and comparing them with fibroblasts from age-matched healthy subjects. Collagen production was determined as collagenase digestible radioactivity and collagen mRNA levels were measured by RT-PCR. Collagen degradation was assessed by specific collagenase assay and gelatin zymography. To determine the structural defects in type I collagen, the newly synthesized proteins were analyzed by SDS-PAGE before and after proteolytic digestion with pepsin. RESULTS: In the present study, we have demonstrated that the collagen production, secretion and degradation in Sotos syndrome is comparable to controls. In addition, no qualitative differences in mRNA transcripts for type I collagen were detected between the control and Sotos syndrome fibroblasts. The secretion and intracellular accumulation of procollagen is also comparable to controls. The analysis of both procollagen and collagen on SDS-PAGE did not exhibit any major structural changes as compared with controls. CONCLUSIONS: Our results on several aspects of collagen metabolism have demonstrated for the first time that collagen, the most abundant of mammalian proteins and the major constituent of bone, is normal in patients with Sotos syndrome. Therefore, it appears that the advanced bone age and accelerated linear growth seen in patients with Sotos syndrome may not be attributed to inherent abnormalities of collagen metabolism. The etiology and the pathogenesis of Sotos syndrome still remains unclear.
MINOR MESH HEADINGS: Adolescence-; Cells,-Cultured; Child-; Collagen-analysis; Collagen-biosynthesis; Collagenases-antagonists-and-inhibitors; Collagenases-metabolism; Craniofacial-Abnormalities-metabolism; Edetic-Acid-pharmacology; Fibroblasts-enzymology; Gelatinases-metabolism; Metalloproteinases-metabolism; Procollagen-analysis; Procollagen-secretion; Protein-Structure,-Secondary; RNA,-Messenger-biosynthesis; Syndrome-
MAJOR MeSH HEADINGS: *Age-Determination-by-Skeleton; *Collagen-metabolism; *Growth-Disorders-metabolism
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: EC 3.4.24; EC 3.4.24.-; EC 3.4.24.24; EC 3.4.24.35; EC 3.4.99.-; 0; 0; 60-00-4; 9007-34-5
NAME OF SUBSTANCE: Metalloproteinases; Collagenases; gelatinase-A; gelatinase-B; Gelatinases; Procollagen; RNA,-Messenger; Edetic-Acid; Collagen
MEDLINE ACCESSION NUMBER: 1998310931
UPDATE CODE: 199811
Record 10 of 41 in MEDLINE EXPRESS (R) 1996-1998
TITLE: [Simpson-Golabi-Behmel syndrome. A new overgrowth syndrome with increased risk of tumor development]
ORIGINAL TITLE: Simpson-Golabi-Behmels syndrom. Nytt overvekstsyndrom med okt risiko for tumorutvikling.
AUTHOR(S): Weidle-B; Orstavik-KH
ADDRESS OF AUTHOR: Barneklinikken Regionsykehuset i Trondheim.
SOURCE (BIBLIOGRAPHIC CITATION): Tidsskr-Nor-Laegeforen. 1998 Apr 20; 118(10): 1556-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0029-2001
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: NORWEGIAN; NON-ENGLISH
COUNTRY OF PUBLICATION: NORWAY
ABSTRACT: Simpson-Golabi-Behmel's syndrome is characterized by pre- and postnatal overgrowth, coarse face, visceromegali, congenital anomalies such as heart defects, diaphragmatic hernia and gastrointestinal malformations. Etiology is X-linked inheritance, the causative gene (GPC3) has recently been discovered. Female carriers may have mild symptoms. We report on an eight year old boy with characteristic anomalies and moderately retarded psychomotor development. Differentiating Simpson-Golabi-Behmel's syndrome and other overgrowth syndromes, such as Beckwith-Wiedemann's and Sotos' syndrome can be difficult. Clinical overlap and differences between these three conditions are discussed. The diagnosis of Simpson-Golabi-Behmel's syndrome is important because of increased risk for cardiac arrhytmias and for development of embryonal tumors such as neuroblastoma and Wilms' tumor in early childhood.
MINOR MESH HEADINGS: Abnormalities,-Multiple-genetics; Child-; Diagnosis,-Differential; Ear,-External-abnormalities; English-Abstract; Growth-Disorders-complications; Growth-Disorders-diagnosis; Hypertelorism-diagnosis; Hypertelorism-genetics; Mouth-Abnormalities-diagnosis; Mouth-Abnormalities-genetics; Neoplasms,-Germ-Cell-and-Embryonal-genetics; Psychomotor-Performance; Risk-Factors; Syndrome-; Tooth-Abnormalities-diagnosis; Tooth-Abnormalities-genetics
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Face-abnormalities; *Growth-Disorders-genetics; *Neoplasms,-Germ-Cell-and-Embryonal-etiology
CHECKTAGS: Case-Report; English-Abstract; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1998277816
UPDATE CODE: 199808
Record 11 of 41 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Serial neuroimaging studies in Sotos syndrome (cerebral gigantism syndrome).
AUTHOR(S): Aoki-N; Oikawa-A; Sakai-T
ADDRESS OF AUTHOR: Department of Neurosurgery, Tokyo Metropolitan Ohkubo Hospital, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Neurol-Res. 1998 Mar; 20(2): 149-52
INTERNATIONAL STANDARD SERIAL NUMBER: 0161-6412
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: To elucidate the mechanism of excessive size of the head in Soto syndrome, serial neuroimaging features from birth were reviewed in two patients. Macrocephaly shortly after birth was attributed to increased volume of the cerebral parenchyma itself (megalencephalon). Subsequent excessive size of the head was related to retention of cerebrospinal fluid in the ventricles and the subarachnoid spaces. Thus, macrocephaly in Sotos syndrome reflects two different mechanisms. The value of serial evaluation of intracranial structures is emphasized.
MINOR MESH HEADINGS: Brain-growth-and-development; Brain-Diseases-physiopathology; Cephalometry-; Child-Development-physiology; Gigantism-physiopathology; Infant,-Newborn; Syndrome-
MAJOR MeSH HEADINGS: *Brain-pathology; *Brain-radiography; *Brain-Diseases-diagnosis; *Gigantism-diagnosis; *Magnetic-Resonance-Imaging; *Tomography,-X-Ray-Computed
CHECKTAGS: Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1998182821
UPDATE CODE: 199807
Record 12 of 41 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Reply to "lymphoproliferative disorders in Sotos syndrome: observation in two cases" [letter; comment]
COMMENTS: Comment on: Am J Med Genet 1996 Sep 6;64(4):588-93
AUTHOR(S): Cole-T; Allanson-J
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1998 Jan 13; 75(2): 226-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Abnormalities,-Multiple-genetics; Brain-abnormalities; Child,-Preschool; Face-abnormalities; Growth-Disorders-complications; Growth-Disorders-genetics; Skull-abnormalities; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Growth-Disorders-diagnosis; *Lymphoproliferative-Disorders-complications
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: COMMENT; LETTER
MEDLINE ACCESSION NUMBER: 1998111369
UPDATE CODE: 199805
Record 13 of 41 in MEDLINE EXPRESS (R) 1996-1998
TITLE: The neuroimaging findings in Sotos syndrome.
AUTHOR(S): Schaefer-GB; Bodensteiner-JB; Buehler-BA; Lin-A; Cole-TR
ADDRESS OF AUTHOR: Meyer Rehabilitation Institute, Department of Pediatrics, University of Nebraska, Omaha 68198-5430, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1997 Feb 11; 68(4): 462-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We reviewed the neuroimaging studies of 40 patients with classic Sotos syndrome. The studies consisted of CT scans only in 4 patients and one or more MRI scans in 36 patients. The diagnosis of Sotos syndrome was made using well-established clinical criteria. The neuroimaging studies of each patient were evaluated subjectively by visual inspection and the chief findings were tabulated and grouped into five categories: 1) ventricular abnormalities, 2) extracerebral fluid spaces, 3) midline abnormalities, 4) migrational abnormalities, and 5) others. The most common abnormality of the cerebral ventricles was prominence of the trigone (90%), followed by prominence of the occipital horns (75%) and ventriculomegaly (63%). The supratentorial extracerebral fluid spaces were increased for age in 70% of the patients and the fluid spaces in the posterior fossa were increased in 70% also. A variety of midline abnormalities were noted but anomalies of the corpus callosum were almost universal. Gray matter heterotopias occurred in only 3 (8%) of 36 patients. Periventricular leukomalacia, presumably the result of prenatal or perinatal difficulties and unrelated to the basic condition, was the most common of the miscellaneous other abnormalities noted. The neuroimaging findings of Sotos syndrome are distinct enough to allow differentiation of this syndrome from other mental retardation syndromes with macrocephaly.
MINOR MESH HEADINGS: Cerebral-Ventricles-abnormalities; Cerebral-Ventricles-pathology; Corpus-Callosum-pathology; Growth-Disorders-diagnosis; Growth-Disorders-genetics; Head-abnormalities; Magnetic-Resonance-Imaging; Mental-Retardation-genetics; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Abnormalities,-Multiple-pathology; *Brain-pathology
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1997173154
UPDATE CODE: 199707
Record 14 of 41 in MEDLINE EXPRESS (R) 1996-1998
TITLE: No evidence for uniparental disomy as a common cause of Sotos syndrome.
AUTHOR(S): Smith-M; Fullwood-P; Qi-Y; Palmer-S; Upadhyaya-M; Cole-T
ADDRESS OF AUTHOR: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1997 Jan; 34(1): 10-2
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: A number of rare diseases (including Sotos syndrome) of unknown aetiology, which occur mainly sporadically and with features of growth disorder and developmental delay, may be caused by imprinted genes and therefore be associated with UPD. Using 112 dinucleotide repeat DNA polymorphisms, we have examined parental inheritance of all autosome pairs, except chromosome 15, in 29 patients with Sotos syndrome. All informative cases showed biparental inheritance and no cases of UPD were found. We conclude that Sotos syndrome is either not caused by an imprinted gene or that UPD is rare or of a segmental form in its aetiology.
MINOR MESH HEADINGS: Cytogenetics-; DNA-isolation-and-purification; Fathers-; Genetic-Markers; Genotype-; Mothers-; Polymerase-Chain-Reaction; Syndrome-
MAJOR MeSH HEADINGS: *Chromosome-Abnormalities-genetics; *Chromosomes,-Human-genetics; *Dinucleotide-Repeats; *Growth-Disorders-genetics; *Mosaicism-genetics
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-49-2
NAME OF SUBSTANCE: Genetic-Markers; DNA
MEDLINE ACCESSION NUMBER: 1997184873
UPDATE CODE: 199706
Record 15 of 41 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Congenital urological anomalies in Sotos syndrome [letter]
AUTHOR(S): Cole-T
SOURCE (BIBLIOGRAPHIC CITATION): Br-J-Urol. 1996 Jul; 78(1): 156
INTERNATIONAL STANDARD SERIAL NUMBER: 0007-1331
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Child-; Child,-Preschool; Syndrome-
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Gigantism-complications; *Urogenital-Abnormalities; *Urogenital-System-abnormalities
CHECKTAGS: Human
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 1996388028
UPDATE CODE: 199612
Record 16 of 41 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Lymphoproliferative disorders in Sotos syndrome: observation of two cases [see comments]
COMMENTS: Comment in: Am J Med Genet 1998 Jan 13;75(2):226-7
AUTHOR(S): Corsello-G; Giuffre-M; Carcione-A; Cuzto-ML; Piccione-M; Ziino-O
ADDRESS OF AUTHOR: Istituto Materno Infantile, Universita di Palermo, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1996 Sep 6; 64(4): 588-93
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Sotos syndrome is included among the overgrowth disorders, most of which have an increased risk of neoplasms. Sotos syndrome does not appear to be related to a specific tumor type, but rather to the development of solid tumors of ectodermal or mesodermal origin in general. We report on two Sotos syndrome patients who developed a non-Hodgkin lymphoma and an acute lymphoblastic leukaemia, respectively. Our experience suggests that there may exist a high frequency of lymphoproliferative disorders in Sotos syndrome, and points out the importance of a long-term follow-up of Sotos syndrome patients, to detect a possible neoplastic evolution.
MINOR MESH HEADINGS: Brain-abnormalities; Child,-Preschool; Growth-Disorders-complications; Growth-Disorders-genetics; Skull-abnormalities; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Lymphoproliferative-Disorders-complications
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1997024700
UPDATE CODE: 199709
Record 17 of 41 in MEDLINE EXPRESS (R) 1996-1998
TITLE: [Soto's syndrome (cerebral gigantism)]
ORIGINAL TITLE: Sotosov sindrom (cerebralni gigantizam).
AUTHOR(S): Jovic-NS; Vranjesevic-DN; Jovic-JZ; Marinkovic-DD
ADDRESS OF AUTHOR: Department of Neurology and Psychiatry for Children and Youth, University School of Medicine, Belgrade.
SOURCE (BIBLIOGRAPHIC CITATION): Srp-Arh-Celok-Lek. 1996 Jan-Feb; 124(1-2): 37-40
INTERNATIONAL STANDARD SERIAL NUMBER: 0370-8179
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: SERBO-CROATIAN-CYRILLIC; NON-ENGLISH
COUNTRY OF PUBLICATION: YUGOSLAVIA
ABSTRACT: In 1964, Sotos and co-workers defined a syndrome of advanced height and bone maturation, dating from birth, mental deficiency and unusual craniofacial appearance with acromegaloid features. About 200 cases have subsequently been reported, more often in males. Occurrence is sporadic, but inheritance may be dominant autosomal. The aetiology is unknown. A two- and a half-year-old boy with Sotos's syndrome is described. He was the first-born child of non-sanguineous healthy parents. The family history revealed no congenital abnormalities and no mental retardation. The proband was born at 36 weeks of gestation with a weight of 4100 g (> P97), length of 53 cm (> P90) and occipital-frontal circumference of 36 cm. His postnatal sornatic linear growth was excessive taking a curve above the 97th percentile. Skeletal maturation and bone age were accelerated. Premature eruption of teeth was observed. Clinical features included macroencephaly, dolichocephaly with a prominent forehead, down-slanting palpebral fissures, hypertelorism, high-arched palate and large hands and feet. His mental deficiency was mild (IQ = 60) with delay of early psychomotor development and expressive language. His karyotype was normal. The CT brain scans revealed mild ventricular dilatation and some cortical atrophy. Electroencephalographic records showed localised theta activity. Endocrinological and metabolic studies failed to show andy definite abnormality.
MINOR MESH HEADINGS: Child,-Preschool; English-Abstract; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple; *Gigantism-; *Mental-Retardation
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1997206804
UPDATE CODE: 199706
Record 18 of 41 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Sotos syndrome with septo-optic dysplasia.
AUTHOR(S): Buyukgebiz-A; Ercal-D; Bober-E
ADDRESS OF AUTHOR: Department of Pediatrics Endocrinology, University of Dokuz Eylul, Faculty of Medicine, Izmir, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr-Endocrinol-Metab. 1996 Jul-Aug; 9(4): 497-9
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: A 12 2/12 year-old boy was admitted to our hospital with the complaint of rapid growth. His birth and postnatal growth history, developmental retardation, physical examination and skeletal radiograms suggested Sotos syndrome. CT and MRI findings revealed septo-optic dysplasia (SOD), which is usually characterized by poor growth, together with cerebral gigantism in our case. These two entities are both rare and as far as we know this is the first patient in the literature with Sotos syndrome and SOD.
MINOR MESH HEADINGS: Age-Determination-by-Skeleton; Body-Height; Child-; Corpus-Callosum-abnormalities; Magnetic-Resonance-Imaging; Mental-Retardation; Syndrome-; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Growth-Disorders-etiology; *Optic-Nerve-pathology; *Septum-Pellucidum-abnormalities
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1997067407
UPDATE CODE: 199704
Record 19 of 41 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Sotos syndrome: evolution of facial phenotype subjective and objective assessment.
AUTHOR(S): Allanson-JE; Cole-TR
ADDRESS OF AUTHOR: Children's Hospital of Eastern Ontario, Ottawa, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1996 Oct 2; 65(1): 13-20
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Sotos syndrome is characterised by pre- and post-natal growth acceleration, advanced bone age, developmental delay and a typical facial Gestalt. We have evaluated 45 individuals with Sotos syndrome who were between age 1 and 25 years, in order to better define the change in facial appearance over time. In each individual, a thorough assessment was made, serial photographs were reviewed, and a series of anthropometric craniofacial measurements was obtained. These were compared with age- and sex-matched normal standards. Both clinical and anthropometric evaluations show that the facial appearance which most clinical geneticists would regard as "classical" is established early in life. The head is large and dolichocephalic, with a rounded and prominent forehead, accentuated by frontoparietal balding. There is narrowing at the temples, fullness of the cheeks, and tapering to a pointed chin. With time, the normal process of facial change occurs, superimposed on that typical Gestalt. As the face lengthens, the dominance of the forehead diminishes and the chin achieves greater prominence. The mandible is long and narrow inferiorly, square or pointed, but prognathism is rare. In a small proportion of patients, a rounder face early in life may challenge diagnosis, but follow-up of these large newborn and older infants should allow diagnosis by early childhood. Visualisation of pattern profiles at different ages, supplemented by statistical measures of variability and similarity, support the clinical impressions outlined above.
MINOR MESH HEADINGS: Adolescence-; Adult-; Aging-; Anthropometry-; Child-; Child,-Preschool; Face-pathology; Gigantism-pathology; Growth-Disorders-pathology; Infant-; Phenotype-; Syndrome-
MAJOR MeSH HEADINGS: *Craniofacial-Abnormalities-pathology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1997071890
UPDATE CODE: 199704
Record 20 of 41 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brain.
AUTHOR(S): Donahue-LR; Cook-SA; Johnson-KR; Bronson-RT; Davisson-MT
ADDRESS OF AUTHOR: Jackson Laboratory, Bar Harbor, Maine 04609, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Mamm-Genome. 1996 Dec; 7(12): 871-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0938-8990
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Megencephaly, enlarged brain, occurs in several acquired and inherited human diseases including Sotos syndrome, Robinow syndrome, Canavan's disease, and Alexander disease. This defect can be distinguished from macrocephaly, an enlarged head, which usually occurs as a consequence of congenital hydrocephalus. The pathology of megencephaly in humans has not been well defined, nor has the defect been reported to occur spontaneously in any other species. In this report we describe a recessive mutation in the mouse that results in a 25% increase in brain size in the first 8 months of life. We have determined that the megencephaly is characterized by overall hypertrophy of the brain, and not by hyperplasia of particular cell types or by hypertrophy of a singular tissue compartment. Edema and hydrocephalus are absent. This mutation has been mapped to mid-distal mouse Chromosome (Chr) 6 in a region homologous with human Chr 12.
MINOR MESH HEADINGS: Behavior,-Animal; Brain-pathology; Brain-Diseases-pathology; Bromodeoxyuridine-; Chromosomes-; Mice-; Organ-Weight; Phenotype-
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Brain-Diseases-genetics; *Chromosome-Mapping; *Genes,-Recessive
CHECKTAGS: Animal; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: RR01183RRNCRR; GM46697GMNIGMS; NS30153NSNINDS
CAS REGISTRY NUMBER OR EC NUMBER: 59-14-3
NAME OF SUBSTANCE: Bromodeoxyuridine
MEDLINE ACCESSION NUMBER: 1997148930
UPDATE CODE: 199704
Record 21 of 41 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Scoliosis in cerebral gigantism, sotos syndrome. A case report.
AUTHOR(S): Haga-N; Nakamura-S; Shimode-M; Yanagisako-Y; Iwaya-T
ADDRESS OF AUTHOR: Department of Pediatric Orthopedics, Shizuoka Children's Hospital, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Spine. 1996 Jul 15; 21(14): 1699-702
INTERNATIONAL STANDARD SERIAL NUMBER: 0362-2436
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: STUDY DESIGN: This retrospective study reviewed five patients with scoliosis associated with cerebral gigantism (Sotos syndrome). OBJECTIVE: To clarify the clinical characteristics and progression of scoliosis in patients with cerebral gigantism. SUMMARY OF BACKGROUND DATA. Little has been reported about spinal deformity in this syndrome. METHODS: The records and radiographs of five patients were reviewed. RESULTS: Scoliosis was first noticed at the age of 5 years in one case and at 6-16 months in the others. Their curve patterns were not consistent. Cobb's angles increased rapidly by 4 years of age and after 8 years of age despite attempts at bracing. CONCLUSIONS: Excessive growth in infancy and growth-spurt period after 8 years of age may be related to the rapid progression of scoliosis in the same period.
MINOR MESH HEADINGS: Child,-Preschool; Growth-physiology; Infant-; Retrospective-Studies; Scoliosis-surgery; Spine-pathology; Spine-radiography; Spine-surgery
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Gigantism-complications; *Scoliosis-complications
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1996436659
UPDATE CODE: 199702
Record 22 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: [Sotos syndrome: follow-up of a case with precocious puberty]
ORIGINAL TITLE: Sindrome di Sotos: follow-up di un caso con puberta anticipata.
AUTHOR(S): Bertelloni-S; Baroncelli-GI; Tomasi-O; Sorrentino-MC; Costa-S; Saggese-G
ADDRESS OF AUTHOR: Cattedra di Pediatria Preventiva e Sociale, Istituto di Clinica Pediatrica, Universita di Pisa, Italia.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Med-Chir. 1995 Jul-Aug; 17(4): 353-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0391-5387
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ITALIAN; NON-ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: Sotos syndrome is a rare disorder of statural overgrowth in children. Peculiar facies, pre- and post-natal overgrowth and advanced bone age are the main clinical findings; developmental delay may be present. The Authors report a case of Sotos syndrome followed until adult height and describe the pattern of growth. The girl showed the typical findings of the syndrome together with premature pubarche and premature pubertal development. Since precocious puberty determines an increase of growth during childhood, the Authors suggest that Sotos syndrome should be considered and excluded in girls with premature pubertal development.
MINOR MESH HEADINGS: Adolescence-; Adult-; Age-Factors; Child-; Child,-Preschool; Diagnosis,-Differential; English-Abstract; Gigantism-diagnosis; Infant-; Infant,-Newborn; Puberty,-Precocious-diagnosis; Syndrome-
MAJOR MeSH HEADINGS: *Gigantism-; *Puberty,-Precocious
CHECKTAGS: Case-Report; English-Abstract; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1996093236
UPDATE CODE: 199603
Record 23 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Cerebral gigantism (Sotos' syndrome). A rare cause of delayed walking and awkward gait.
AUTHOR(S): Sobel-E
ADDRESS OF AUTHOR: New York College of Podiatric Medicine, NY 10035, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Am-Podiatr-Med-Assoc. 1995 Sep; 85(9): 497-9
INTERNATIONAL STANDARD SERIAL NUMBER: 8750-7315
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: A case history of an 8-year-old girl with cerebral gigantism (Sotos' syndrome) has been presented. Throughout her life, this child has demonstrated all of the common features of Sotos' syndrome including large size at birth, excessive growth during childhood, dysmorphic craniofacial features, delay in motor and speech development, generalized clumsiness, and awkward gait. Family history was contributory with delays in early language development and the possibility that the child's father had Sotos' syndrome. When evaluating a pediatric patient for pes planus, delayed walking, and gait problems, the practitioner should consider the entire clinical profile and unusual etiologies.
MINOR MESH HEADINGS: Child-; Gigantism-complications; Movement-Disorders-physiopathology; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Brain-abnormalities; *Gait-; *Gigantism-diagnosis; *Movement-Disorders-etiology; *Walking-
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1996047851
UPDATE CODE: 199601
Record 24 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Congenital urological anomalies in Sotos syndrome.
AUTHOR(S): Hammadeh-MY; Dutta-SN; Cornaby-AJ; Morgan-RJ
ADDRESS OF AUTHOR: Department of Urology, Royal Free Hospital, London, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Br-J-Urol. 1995 Jul; 76(1): 133-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0007-1331
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Adult-; Bladder-Diseases-complications; Diverticulum-complications; Syndrome-
MAJOR MeSH HEADINGS: *Bladder-Diseases-congenital; *Diverticulum-congenital; *Gigantism-complications
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1995376072
UPDATE CODE: 199512
Record 25 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Ocular findings in a family with Sotos syndrome (cerebral gigantism).
AUTHOR(S): Koenekoop-RK; Rosenbaum-KN; Traboulsi-EI
ADDRESS OF AUTHOR: Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Eye Institute, Baltimore, MD 21287-9237, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Ophthalmol. 1995 May; 119(5): 657-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9394
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: PURPOSE/METHODS: We examined the ocular features in a two-generation family with Sotos syndrome (cerebral gigantism). Sotos syndrome is characterized by excessive growth in prenatal and early life, advanced bone age, and typical facial features. RESULTS/CONCLUSION: One patient had presenile nuclear sclerotic cataracts, megalophthalmos, hypoorbitism, and exotropia. One of her daughters had megalocornea, exophoria, and iris hypoplasia. Her other daughter had megalocornea. The ophthalmologist can play an important role in the diagnosis and treatment of Sotos syndrome.
MINOR MESH HEADINGS: Adolescence-; Adult-; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Brain-abnormalities; *Eye-Diseases-diagnosis; *Facial-Bones-abnormalities; *Gigantism-diagnosis
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1995250875
UPDATE CODE: 199508
SUBSET: AIM
Record 26 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Normal growth, despite renal failure, in a child with Sotos syndrome [letter]
AUTHOR(S): Eijgenraam-FJ; Donckerwolcke-RA; Wit-JM
SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Pediatr. 1995 Feb; 154(2): 167-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0340-6199
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Infant-; Syndrome-
MAJOR MeSH HEADINGS: *Gigantism-physiopathology; *Growth-; *Kidney-Failure,-Chronic-physiopathology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 1995237248
UPDATE CODE: 199507
Record 27 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: [Status epilepticus in two patients with Sotos syndrome]
AUTHOR(S): Korematsu-S; Goto-K; Ishihara-T; Ishiwa-S; Izumi-T; Ogawa-T
ADDRESS OF AUTHOR: Department of Pediatrics, Oita Medical University.
SOURCE (BIBLIOGRAPHIC CITATION): No-To-Hattatsu. 1995 Jan; 27(1): 29-34
INTERNATIONAL STANDARD SERIAL NUMBER: 0029-0831
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: Two patients with Sotos syndrome showed very intractable and prolonged status epilepticus, resulting in poor outcomes. Clinical seizures and EEG abnormalities in patients with Sotos syndrome are sometimes noted, but they are usually mild. These two patients showed hypoplasia of corpus callosum on MRI. We considered the mechanism of intractable seizures, and emphasized the importance of careful management for their seizures and EEG abnormalities.
MINOR MESH HEADINGS: Child,-Preschool; Electroencephalography-; English-Abstract; Status-Epilepticus-physiopathology; Syndrome-
MAJOR MeSH HEADINGS: *Brain-Diseases-complications; *Gigantism-complications; *Status-Epilepticus-etiology
CHECKTAGS: Case-Report; English-Abstract; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1995178173
UPDATE CODE: 199506
Record 28 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Sotos syndrome: a study of the diagnostic criteria and natural history.
AUTHOR(S): Cole-TR; Hughes-HE
ADDRESS OF AUTHOR: Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, UK.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1994 Jan; 31(1): 20-32
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Seventy-nine patients with a provisional diagnosis of Sotos syndrome were clinically assessed, and their photographs between the ages of 1 and 6 years evaluated. These photographs, together with photographs of first degree relatives, also at ages 1 to 6 years, were reviewed by four clinical geneticists. Forty-one probands (but no first degree relatives) were identified in whom the facial gestalt was thought to be characteristic of Sotos syndrome. Comparison of anthropometric measurements, bone age, and developmental delay in these 41 probands showed marked differences between them and the remaining 38 probands, and allowed the formulation of guidelines for the diagnosis of Sotos syndrome. Length was identified as the most significantly increased prenatal parameter. In childhood occipitofrontal head circumference (OFC), height, and weight were all increased. OFC remained above the 97th centile in all but one case throughout childhood and adulthood, whereas height and weight had a tendency to return towards the mean. This 'normalisation' was more pronounced in females and was probably related to their early puberty. Early developmental delay and an advanced bone age, seen in 100% and 84% respectively of study cases, may be invariable in Sotos syndrome, but selection bias and limited data prevented confirmation of this supposition. The authors suggest that facial gestalt, growth pattern, bone age, and developmental delay are the major diagnostic criteria. Using these criteria, no affected first degree relatives were identified. There were few long term medical complications in the probands, but behavioural difficulties caused considerable parental concern.
MINOR MESH HEADINGS: Abnormalities,-Multiple-physiopathology; Adolescence-; Age-Determination-by-Skeleton; Anthropometry-; Child-; Child,-Preschool; Chromosome-Abnormalities; Developmental-Disabilities-diagnosis; Developmental-Disabilities-physiopathology; Diagnosis,-Differential; Gait-; Gastrointestinal-Diseases-diagnosis; Heart-Defects,-Congenital-diagnosis; Infant-; Respiratory-Tract-Infections-diagnosis; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Face-abnormalities
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1994202136
UPDATE CODE: 199407
Record 29 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: [Maxillofacial and dental anomalies in multiple-abnormality syndromes. The clinical and therapeutic aspects in Sotos' syndrome]
ORIGINAL TITLE: Anomalie maxillo-facciali e dentali nelle sindromi polimalformative. Aspetti clinici e terapeutici nella sindrome di Sotos.
AUTHOR(S): Staffolani-N; Belcastro-S; Guerra-M
ADDRESS OF AUTHOR: Cattedra di Ortognatodonzia e Gnatologia, Universita degli Studi di Perugia.
SOURCE (BIBLIOGRAPHIC CITATION): Minerva-Stomatol. 1994 Nov; 43(11): 525-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0926-4970
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ITALIAN; NON-ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: The authors describe the maxillo-facial and dental anomalies present in a rare polymalformative syndrome: Sotos' syndrome. After having examined the syndrome and reported a case, they propose a therapeutic approach for the treatment of young handicapped cooperating patients.
MINOR MESH HEADINGS: Adolescence-; English-Abstract; Malocclusion,-Angle-Class-III-pathology; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-pathology; *Brain-Diseases-pathology; *Face-abnormalities; *Gigantism-pathology; *Jaw-Abnormalities-pathology; *Tooth-Abnormalities-pathology
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 1995257881
UPDATE CODE: 199508
SUBSET: DENTAL
Record 30 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Language and behavior in children with Sotos syndrome.
AUTHOR(S): Finegan-JK; Cole-TR; Kingwell-E; Smith-ML; Smith-M; Sitarenios-G
ADDRESS OF AUTHOR: Department of Psychology, Hospital for Sick Children, Toronto, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): J-Am-Acad-Child-Adolesc-Psychiatry. 1994 Nov-Dec; 33(9): 1307-15
INTERNATIONAL STANDARD SERIAL NUMBER: 0890-8567
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVE: To examine language and behavior in children with Sotos syndrome, an overgrowth syndrome involving advanced bone age, characteristic facies, and developmental disability. METHOD: Twenty-seven children with Sotos syndrome were compared with 20 children with overgrowth, intellectual disability, and facies not characteristic of Sotos syndrome. Ages ranged from 5 to 16 years. Direct assessment was undertaken with standardized measures of intelligence and language abilities. Behavior was examined by parent and teacher report. RESULTS: Children with Sotos syndrome had levels of intelligence in the severely disabled to average range, with the majority falling in the borderline range. Mean level of intelligence was significantly higher than that observed for children in the comparison group. Language abilities were developed to a level consistent with overall level of intelligence. Rates of parent- and teacher-reported behavior problems were significantly higher than normal, but, with the exception of temper tantrums, did not differ from those observed in children in the comparison group. Attention-deficit hyperactivity disorder was observed in 38% of children with Sotos syndrome. They were more irritable and had more stereotypic behavior and inappropriate speech than is expected in children with intellectual disabilities, and they were more withdrawn and had more stereotypic behavior than children in the comparison group. CONCLUSIONS: Assessment of language abilities revealed no specific language impairment. High rates of behavior problems were observed, but these were not higher than those observed for other large, delayed, dysmorphic children.
MINOR MESH HEADINGS: Adolescence-; Child-; Child,-Preschool; Gigantism-congenital; Gigantism-psychology; Mental-Retardation-psychology; Phenotype-; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-psychology; *Child-Behavior-Disorders-etiology; *Gigantism-complications; *Language-Disorders-etiology; *Mental-Retardation-complications
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1995088205
UPDATE CODE: 199503
Record 31 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Familial Sotos syndrome: longitudinal study of two additional cases.
AUTHOR(S): Scarpa-P; Faggioli-R; Voghenzi-A
ADDRESS OF AUTHOR: Service of Pediatric Neurology, University of Ferrara, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Genet-Couns. 1994; 5(2): 155-9
INTERNATIONAL STANDARD SERIAL NUMBER: 1015-8146
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SWITZERLAND
ABSTRACT: We describe two siblings with Sotos syndrome, probably inherited from their father. The diagnosis was made early in both children, who presented psychomotor delay from early on as well as a strikingly similar phenotype (macrocrania, coarse face, accelerated growth). The prolonged follow-up of both children shows severe but non progressive motor and language developmental delay, followed by improvement with age in the girl. This improvement is also expected for the boy, who shows identical development. The expressive language delay present in both children may be explained by oral apraxia rather than mental handicap. The progressive motor and mental improvement, which can occasionally reach normal level in adults, and the tendency toward phenotypic normalization could explain the difficulty in making a definite diagnosis in adults and thus in defining the pattern of inheritance.
MINOR MESH HEADINGS: Adult-; Child-; Child,-Preschool; Follow-Up-Studies; Gigantism-diagnosis; Infant-; Infant,-Newborn; Longitudinal-Studies; Mental-Retardation-diagnosis; Mental-Retardation-genetics; Phenotype-; Syndrome-
MAJOR MeSH HEADINGS: *Gigantism-genetics
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1995000410
UPDATE CODE: 199501
Record 32 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Ocular manifestations of Sotos syndrome.
AUTHOR(S): Maino-DM; Kofman-J; Flynn-MF; Lai-L
ADDRESS OF AUTHOR: Department of Pediatrics/Binocular Vision, Illinois College of Optometry, Illinois Eye Institute, Chicago 60616.
SOURCE (BIBLIOGRAPHIC CITATION): J-Am-Optom-Assoc. 1994 May; 65(5): 339-46
INTERNATIONAL STANDARD SERIAL NUMBER: 0003-0244
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: BACKGROUND: Sotos syndrome (cerebral gigantism) is a congenital syndrome characterized by large body size for patient age, advanced bone age, and unusual facial characteristics with varying levels of cognitive, developmental and perceptual deficits. While more than 150 cases have been reported, only a single case report has been published in the ophthalmic literature. This study briefly reviews the pertinent aspects of this syndrome and reports on the medical, physical, developmental and ocular manifestations of 32 subjects. METHODS: Our patient population was obtained from several schools and colleges of optometry and private offices and clinics of optometrists and ophthalmologists. The Sotos Syndrome Support Association assisted in obtaining patients for this study as well. All children had been previously diagnosed as having SS. Commonly accepted methods for evaluating young, non-verbal, and/or handicapped children were used. RESULTS: Our findings indicate that moderate to high refractive error (hyperopia), nystagmus, and strabismus (esotropia) are commonly associated conditions of this syndrome. CONCLUSIONS: Since many of our subjects exhibited these amblyogenic precursors, a routine optometric vision evaluation should be an essential part of the individual educational and habilitation plan for all children with Sotos syndrome.
MINOR MESH HEADINGS: Child-; Child,-Preschool; Infant-; Ocular-Motility-Disorders-diagnosis; Refractive-Errors-diagnosis; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple; *Gigantism-congenital; *Ocular-Motility-Disorders-etiology; *Refractive-Errors-etiology; *Skull-abnormalities
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 1994351145
UPDATE CODE: 199412
Record 33 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Metacarpophalangeal pattern profile analysis in Sotos and Marfan syndrome.
AUTHOR(S): Dijkstra-PF; Cole-TR; Oorthuys-JW; Venema-HW; Oosting-J; Nocker-RE
ADDRESS OF AUTHOR: Department of Radiology, Academic Medical Centre, University of Amsterdam, The Netherlands.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1994 May 15; 51(1): 55-60
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Patients with Sotos and Marfan syndrome have unusually long metacarpals and phalanges which may make the differential diagnosis difficult in younger children. Using Q-scores, we compared metacarpophalangeal pattern profile (MCPP) analysis in these two syndromes and identified distinct and different pattern profiles. This illustrates that the MCPPs are specific in these syndromes, even at an early age, and not related solely to the unusually long metacarpals and phalanges. For this study we used data from 50 Sotos patients (34 from the United Kingdom and 16 from the Netherlands, with a total of 95 hand films) and 36 Marfan patients (from the Netherlands, with 98 hand films). Of all patients over age 3 years the bone length (including the epiphysis) was determined. The patients under 7 1/2 years (29 Sotos and 12 Marfan) were also measured without inclusion of the epiphysis. The patients measured without epiphysis had a relative short metacarpal 1 (MC1) and long distal phalanx 1 (DPh1) in Sotos syndrome, and a relative long MC1 and short DPh1 in Marfan syndrome. Between age 3 and 7 1/2 years more than 90% of the films could be classified correctly using these two variables. Of the roentgenograms measured with epiphyses, about 80% were classified correctly.
MINOR MESH HEADINGS: Adolescence-; Adult-; Anthropometry-methods; Child-; Child,-Preschool; Diagnosis,-Differential; Discriminant-Analysis; Fingers-pathology; Gigantism-pathology; Infant-; Marfan-Syndrome-pathology; Metacarpus-pathology; Reference-Values
MAJOR MeSH HEADINGS: *Fingers-radiography; *Gigantism-congenital; *Gigantism-radiography; *Marfan-Syndrome-radiography; *Metacarpus-radiography
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1994303706
UPDATE CODE: 199410
Record 34 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Metacarpophalangeal pattern profile analysis in 14 Japanese children with Sotos syndrome.
AUTHOR(S): Takahashi-Y; Imaizumi-K; Takada-F; Kuroki-Y
ADDRESS OF AUTHOR: Division of Medical Genetics, Kanagawa Children's Medical Center, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Jpn-J-Hum-Genet. 1994 Mar; 39(1): 187-91
INTERNATIONAL STANDARD SERIAL NUMBER: 0916-8478
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: Metacarpophalangeal pattern profile (MCPP) was analyzed in 14 Japanese children (mean age 6.7 years old) with Sotos syndrome. The patients were divided into 2 groups based on age; group 1 (n = 8): 6 years or over; group 2 (n = 6): less than 6 years. The mean values of standard deviation of the 14 patients with obviously large hand were all above 1.4. The MCPP in group 1 showed (1) two major peaks in metacarpal and proximal phalangeal areas, (2) a small peak in middle phalangeal area, and (3) relatively short distal phalangeal bones compared with the metacarpal and proximal phalangeal bones. The MCPP in group 2 was similar to that in group 1, but an additional peak was observed in distal phalangeal area. The MCPP of Japanese patients showed a quite similar pattern to that of Caucasian patients, and we conclude the method can also be a useful tool in the diagnosis of the Japanese patients. In correlation study, 8 of the 14 patients had a significant positive correlation, but 2 patients in group 2, less than 3 years, had no positive correlation. We suggest the method is not applicable to young patients less than 3 years.
MINOR MESH HEADINGS: Child-; Child,-Preschool; Facial-Bones-abnormalities; Infant-; Japan-; Skull-abnormalities; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Bone-and-Bones-pathology; *Gigantism-diagnosis; *Hand-
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1994297248
UPDATE CODE: 199410
Record 35 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: [Anesthesia in Sotos' syndrome (letter)]
ORIGINAL TITLE: Anestesia en el sindrome de Sotos.
AUTHOR(S): de-Nadal-M; Hervas-C; Trull-T; Saludes-J; Miguel-E
SOURCE (BIBLIOGRAPHIC CITATION): Rev-Esp-Anestesiol-Reanim. 1993 Nov-Dec; 40(6): 375-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0034-9356
PUBLICATION YEAR: 1993
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
COUNTRY OF PUBLICATION: SPAIN
MINOR MESH HEADINGS: Adolescence-; Brain-Neoplasms-surgery; Cranial-Nerve-Neoplasms-surgery; Infant-; Optic-Chiasm-surgery; Parietal-Lobe-surgery; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple; *Anesthesia,-General; *Brain-abnormalities; *Facial-Bones-abnormalities; *Intubation,-Intratracheal; *Mental-Retardation; *Muscular-Diseases
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 1994181907
UPDATE CODE: 199406
Record 36 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: [Cognitive and psychological profiles in dysmorphic syndromes]
ORIGINAL TITLE: Profili cognitivi e psicologici nelle sindromi dismorfiche.
AUTHOR(S): Battaglia-A; Ferrari-AR
ADDRESS OF AUTHOR: INPE Universita di Pisa, IRCCS Stella Maris, Calambrone, Italia.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Med-Chir. 1993 May-Jun; 15 Suppl 1: 23-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0391-5387
PUBLICATION YEAR: 1993
LANGUAGE OF ARTICLE: ITALIAN; NON-ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: The recognizable patterns of human malformations have recently received much attention, particularly because of the decline of other diseases. Patients with a congenital malformation syndrome come to the Child Neuropsychiatrist for various reasons, such as: mental retardation of variable degree, learning disabilities, speech delay or absence of speech, behaviour disorders, various neurological impairment. Parents, however, seem to be mainly concerned about the prognosis of cognitive and psychological aspects. We have studied 83 patients with a specific pattern of malformations (35 affected by the Sotos syndrome; 25 by the Williams syndrome; 9 by the Cohen syndrome; 8 by the Cornelia De Lange syndrome; 6 by the Rubinstein-Taybi syndrome) and have particularly investigated their cognitive and psychological profiles. 13/83 showed a normal cognitive level (9 Sotos syndrome; 4 Williams syndrome), while 70/83 showed a cognitive deficit ranging from mild-moderate (56 cases) to moderate-severe (14 cases). Linguistic deficits are prominent in the Sotos, Cornelia De Lange, and Rubinstein-Taybi patients, while practo-gnosic deficits are frequent in the Williams and particularly in the Cohen syndrome patients. The personality structure is characterized by immaturity and anxiety in all but the Williams syndrome patients, where some peculiar neurotic traits may be observed. All patients showed good communicative abilities.
MINOR MESH HEADINGS: Abnormalities-epidemiology; Adolescence-; Adult-; Child-; Cognition-Disorders-epidemiology; Cognition-Disorders-etiology; Cognition-Disorders-psychology; English-Abstract; Follow-Up-Studies; Personality-Disorders-epidemiology; Personality-Disorders-etiology; Personality-Disorders-psychology; Psychiatric-Status-Rating-Scales; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities-psychology; *Cognition-
CHECKTAGS: English-Abstract; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1994021614
UPDATE CODE: 199401
Record 37 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Constitutional chromosome anomalies in patients with cerebral gigantism (Sotos syndrome).
AUTHOR(S): Haeusler-G; Guchev-Z; Kohler-I; Schober-E; Haas-O; Frisch-H
ADDRESS OF AUTHOR: Pediatric Department, University of Vienna, Austria.
SOURCE (BIBLIOGRAPHIC CITATION): Klin-Padiatr. 1993 Sep-Oct; 205(5): 351-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0300-8630
PUBLICATION YEAR: 1993
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Two boys are presented with the clinical features of cerebral gigantism and chromosomal variants which have not been described so far in this syndrome. In the first boy a de novo pericentric inversion of chromosome Y was found, the karyotypes of all other investigated family members were normal. The patient had an obstructive hypertrophic cardiomyopathy and atrial septal defect type II. The second boy had inherited pericentric inversion of the heterochromatic region of chromosome 9 from his mother. This chromosome 9 variant was also found in his sister who had a similar phenotype but without gigantism. Endocrine evaluation demonstrated normal results in both boys. The intellectual achievement in both cases was average.
MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Adolescence-; Child-; Gigantism-diagnosis; Karyotyping-; Neuropsychological-Tests; Phenotype-; Y-Chromosome
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosome-Abnormalities-genetics; *Chromosomes,-Human,-Pair-9; *Gigantism-genetics; *Sex-Chromosome-Abnormalities-genetics
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1994017469
UPDATE CODE: 199401
Record 38 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Malignancy in Sotos syndrome [letter; comment]
COMMENTS: Comment on: J Pediatr 1992 Apr;120(4 Pt 1):572-4
AUTHOR(S): Lippert-MM
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr. 1993 Feb; 122(2): 328
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3476
PUBLICATION YEAR: 1993
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Gigantism-genetics; Gigantism-pathology; Infant-; Lung-Neoplasms-pathology; Neoplasms,-Germ-Cell-and-Embryonal-complications; Neoplasms,-Germ-Cell-and-Embryonal-pathology; Syndrome-
MAJOR MeSH HEADINGS: *Gigantism-complications; *Lung-Neoplasms-complications
CHECKTAGS: Human; Male
PUBLICATION TYPE: COMMENT; LETTER
MEDLINE ACCESSION NUMBER: 1993155858
UPDATE CODE: 199305
SUBSET: AIM
Record 39 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Sotos syndrome; an endocrine and neurological maze.
AUTHOR(S): Ahsan-T; Rab-SM
ADDRESS OF AUTHOR: Department of Medicine, Jinnah Postgraduate Medical Centre, Karachi.
SOURCE (BIBLIOGRAPHIC CITATION): JPMA-J-Pak-Med-Assoc. 1993 Feb; 43(2): 36-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0030-9982
PUBLICATION YEAR: 1993
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: PAKISTAN
MINOR MESH HEADINGS: Adult-; Brain-Diseases-congenital; Brain-Diseases-physiopathology; Gigantism-etiology; Gigantism-physiopathology; Neurosecretory-Systems-physiopathology; Syndrome-
MAJOR MeSH HEADINGS: *Brain-Diseases-diagnosis; *Gigantism-diagnosis
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1993267869
UPDATE CODE: 199308
Record 40 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Growth hormone hypersecretion in Sotos' syndrome?
AUTHOR(S): Ambler-GR; Cowell-CT; Quigley-CA; Silink-M
ADDRESS OF AUTHOR: Ray Williams Institute of Paediatric Endocrinology, Diabetes and Metabolism, Children's Hospital, Camperdown, NSW, Australia.
SOURCE (BIBLIOGRAPHIC CITATION): Acta-Paediatr. 1993 Feb; 82(2): 214-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0803-5253
PUBLICATION YEAR: 1993
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NORWAY
MINOR MESH HEADINGS: Adolescence-; Infant-; Insulin-Like-Growth-Factor-I-metabolism; Skull-abnormalities
MAJOR MeSH HEADINGS: *Gigantism-physiopathology; *Somatotropin-secretion
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 67763-96-6; 9002-72-6
NAME OF SUBSTANCE: Insulin-Like-Growth-Factor-I; Somatotropin
MEDLINE ACCESSION NUMBER: 1993237726
UPDATE CODE: 199307
Record 41 of 41 in MEDLINE EXPRESS (R) 1993-1995
TITLE: The fragile-X phenotype. Computer assisted analysis of the dysmorphological features and discrimination from the Sotos phenotype.
AUTHOR(S): Stengel-Rutkowski-S; Apacik-C; Kreyenberg-K; Jakobeit-M; Schmalenberger-B; Fahsold-R
ADDRESS OF AUTHOR: Institute fur Soziale Padiatrie und Jugendmedizin der Universitat Abteilung Genetik, Munchen.
SOURCE (BIBLIOGRAPHIC CITATION): Genet-Couns. 1993; 4(1): 51-8
INTERNATIONAL STANDARD SERIAL NUMBER: 1015-8146
PUBLICATION YEAR: 1993
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SWITZERLAND
ABSTRACT: Fragile-X and Sotos phenotypes may be difficult to distinguish. This is illustrated with a case report. Computer assisted phenotype analyses (MDDB), using the complete trait list of this patient, suggested the fragile-X diagnosis, which later was confirmed by molecular techniques. The results of corresponding phenotype analyses are summarized for 17 children with proven fragile-X, and 10 children with suggested Sotos syndrome.
MINOR MESH HEADINGS: Child-; Databases,-Bibliographic; Diagnosis,-Computer-Assisted; Diagnosis,-Differential; Fragile-X-Syndrome-diagnosis; Mental-Retardation-diagnosis; Muscle-Hypotonia-diagnosis
MAJOR MeSH HEADINGS: *Fragile-X-Syndrome-genetics; *Mental-Retardation-genetics; *Muscle-Hypotonia-genetics; *Phenotype-
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1993228911
UPDATE CODE: 199307