A literature search at Indiana University, Bloomington, Indiana
The following MEDLINE items were compiled in response to a Shufflebrain reader's inquiry about agenesis of the corpus callosum and are presented with the generous co-operation and kind permission of SilverPlatterMEDLINE EXPRESS (R) 1991-1995 1 of 24
TI: Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome [letter; comment]
CM: Comment on: Hum Genet 1994 Jul;94(1):104-6
AU: Digilio-MC; Marino-B; Giannotti-A; Dallapiccola-B
SO: Hum-Genet. 1995 Aug; 96(2): 251-3
ISSN: 0340-6717
PY: 1995
LA: ENGLISH
CP: GERMANY
MESH: Adult-; Foot-Deformities,-Congenital; Hand-Deformities,-Congenital; Heart-Atrium-abnormalities; Heart-Defects,-Congenital; Infant,-Newborn; Tooth-Abnormalities
MESH: *Ellis-Van-Creveld-Syndrome-diagnosis
TG: Case-Report; Female; Human; Male
PT: COMMENT; LETTER
AN: 95362264
UD: 9511
MEDLINE EXPRESS (R) 1991-1995 2 of 24
TI: Symptomatic heterozygosity in the Ellis-van Creveld syndrome?
AU: Spranger-S; Tariverdian-G
AD: Institute of Human Genetics and Anthropology, University of Heidelberg, Germany.
SO: Clin-Genet. 1995 Apr; 47(4): 217-20
ISSN: 0009-9163
PY: 1995
LA: ENGLISH
CP: DENMARK
AB: A 13-month-old girl with Ellis-van Creveld syndrome and her mildly affected father are described. We discuss whether the father is a symptomatic heterozygote of the Ellis-van Creveld syndrome or an untypical affected patient with Weyers' acrodental dysostosis.
MESH: Adult-; Ellis-Van-Creveld-Syndrome-pathology; Heterozygote-; Infant-; Pedigree-
MESH: *Ellis-Van-Creveld-Syndrome-genetics
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 95354330
UD: 9511
MEDLINE EXPRESS (R) 1991-1995 3 of 24
TI: Common atrium with Ebstein's anomaly in a neonate with Ellis-van Creveld syndrome.
AU: Chang-YC; Wu-JM; Lin-SJ; Wu-MH
AD: Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan, R.O.C.
SO: Acta-Paediatr-Sin. 1995 Jan-Feb; 36(1): 50-2
ISSN: 0001-6578
PY: 1995
LA: ENGLISH
CP: TAIWAN
AB: A female newborn with characteristic multiple anomalies of Ellis-van Creveld syndrome is reported. Common atrium with Ebstein's malformation of the tricuspid valve was diagnosed by serial echocardiographic examinations. Such a combination of cardiac anomalies have not previously been reported in this syndrome.
MESH: Infant,-Newborn
MESH: *Ebstein's-Anomaly-complications; *Ellis-Van-Creveld-Syndrome-complications
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 95297349
UD: 9509
MEDLINE EXPRESS (R) 1991-1995 4 of 24
TI: Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.
AU: Nagai-T; Nishimura-G; Kato-R; Hasegawa-T; Ohashi-H; Fukushima-Y
AD: Division of Pediatrics, Tokyo Metropolitan Kiyose Children's Hospital, Japan.
SO: Am-J-Med-Genet. 1995 Jan 2; 55(1): 16-8
ISSN: 0148-7299
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: We describe a 5-year-old Japanese boy who has some radiographic findings characteristic of asphyxiating thoracic dystrophy (ATD)-chondroectodermal dysplasia with a de novo chromosome abnormality. He also has mild mental retardation, short stature, hypoplastic hair and skin, oligodontia, small thoracic cage, hypoplastic pelvis and cone-shaped epiphyses of hands. On cytogenetic studies he was found to have a de novo del(12)(p11.21p12.2). These results suggest that the locus of the gene associated with ATD-chondroectodermal dysplasia may be situated at 12p11.21p12.2.
MESH: Child,-Preschool; Chromosome-Banding; Epiphyses-abnormalities; Pelvic-Bones-abnormalities
MESH: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-12; *Ellis-Van-Creveld-Syndrome-genetics; *Thorax-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 95216651
UD: 9507
MEDLINE EXPRESS (R) 1991-1995 5 of 24
TI: Ellis-van Creveld syndrome (chondroectodermal dysplasia).
AU: Avolio-A Jr; Berman-AT; Israelite-CL
AD: Department of Orthopedics, Hahnemann University, Philadelphia, PA 19102.
SO: Orthopedics. 1994 Aug; 17(8): 735-7
ISSN: 0147-7447
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
MESH: Child-; Dwarfism-complications; Ellis-Van-Creveld-Syndrome-complications
MESH: *Ellis-Van-Creveld-Syndrome-radiography
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 95061683
UD: 9502
MEDLINE EXPRESS (R) 1991-1995 6 of 24
TI: [The Ellis-Van Creveld syndrome. Apropos 2 clinical cases]
TO: Sindrome de Ellis-Van Creveld. A proposito de dois casos clinicos.
AU: Santos-JM; Pipa-J; Antunes-L; Neves-O; Nascimento-C; Cabral-C; Costa-A; Barros-O; Carvalho-J; Angelo-F; et-al
AD: Internato Complementar de Cardiologia, Hospital Distrital de Viseu.
SO: Rev-Port-Cardiol. 1994 Jan; 13(1): 45-50, 8
ISSN: 0304-4750
PY: 1994
LA: PORTUGUESE; NON-ENGLISH
CP: PORTUGAL
AB: The chondroectodermal dysplasia--Ellis-Van Creveld Syndrome--is an unusual form of congenital disease, genetically transmitted with a recessive autosomal pattern, which involves the skeletal system, nails and teeth. In about 50 to 60 percent of cases, the affected individuals show cardiac abnormalities, and the most common are single atrium, large atrial septal defect, ostium primum type. Other abnormalities may accompany these lesions, such as aortic atresia, hypoplasia of the ascending aorta or of the left ventricle. About half of the patients die in the childhood due to cardiorespiratory complications. Two cases are described with this syndrome, a male and a female, with 54 and 45 years old respectively; they were followed in our Departments and showed congestive heart failure and single atrium. These cases led us to review the subject; we believe that the unusual longevity of these patients can be related to their relatively benign cardiac disease.
MESH: Ellis-Van-Creveld-Syndrome-complications; English-Abstract; Heart-Atrium-abnormalities; Heart-Defects,-Congenital-etiology; Heart-Failure,-Congestive-etiology; Middle-Age
MESH: *Ellis-Van-Creveld-Syndrome-diagnosis; *Heart-Defects,-Congenital-diagnosis; *Heart-Failure,-Congestive-diagnosis
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 94206569
UD: 9407
MEDLINE EXPRESS (R) 1991-1995 7 of 24
TI: Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?
AU: Fryns-JP; Moerman-P
AD: Centre for Human Genetics, Leuven, Belgium.
SO: J-Med-Genet. 1993 Apr; 30(4): 322-4
ISSN: 0022-2593
PY: 1993
LA: ENGLISH
CP: ENGLAND
AB: A male newborn with acromesomelic short limbed dwarfism, genital hypoplasia, and vertebral anomalies is reported. As the child had an important number of clinical and radiological symptoms seen in patients with Ellis-van Creveld syndrome, we raise the question of whether he may represent a variant example of this syndrome despite the absence of cardinal symptoms such as postaxial polydactyly and ectodermal changes (nail hypoplasia).
MESH: Abnormalities,-Multiple-genetics; Ellis-Van-Creveld-Syndrome-genetics; Heart-Defects,-Congenital-genetics; Infant,-Newborn; Phenotype-
MESH: *Bone-and-Bones-abnormalities; *Dwarfism-genetics; *Ellis-Van-Creveld-Syndrome-diagnosis; *Genitalia,-Male-abnormalities; *Hair-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 93253754
UD: 9308
MEDLINE EXPRESS (R) 1991-1995 8 of 24
TI: Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome).
AU: Qureshi-F; Jacques-SM; Evans-MI; Johnson-MP; Isada-NB; Yang-SS
AD: Department of Pathology, Hutzel Hospital, Detroit, MI 48201.
SO: Am-J-Med-Genet. 1993 Feb 15; 45(4): 471-6
ISSN: 0148-7299
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: Chondroectodermal dysplasia (CED) is an uncommon autosomal recessive disorder and one of the short rib polydactyly syndromes (SRPS). It is characterized by acromelic and mesomelic shortness of limbs, postaxial polydactyly, small chest, ectodermal dysplasia, and in many cases, congenital heart defects. Controversy exists over possible changes in the growth plate. With the advent of ultrasonographic examination, increasing numbers of fetuses with osteochondrodysplasias are examined by pathologists. Since histopathologic examination of the skeletal system is useful in defining various osteochondrodysplasias and it has not been described in the fetus with CED, we herein describe 3 cases of fetal CED with emphasis on skeletal histopathology. All 3 pregnancies were terminated at 22-23 weeks because of ultrasonographic demonstration of short limbs and growth retardation. Radiologically, each fetus had acromelic and mesomelic shortness of long bones with smooth round metaphyses, vertically short iliac bones, short ribs and normal vertebrae. These findings are similar to those described in the larger newborn infant with CED. Histopathologically, the cartilage of the long bones showed chondrocytic disorganization in the physeal growth zone. The findings are dissimilar to those of larger infants and older children in whom chondrocytic columnization has been seen in the central physis and disorganization in peripheral physis. Furthermore, a variable degree of chondrocytic disorganization was also seen in the central physeal growth zone of vertebrae in these fetuses. Other findings noted at fetopsy were: polydactyly in all 3 cases, congenital heart defect in 2 and an abnormal frenulum in one case. The foregoing phenotypic and radiographic manifestations and skeletal histopathology help separate CED from other SRPS.
MESH: Bone-and-Bones-radiography; Bone-and-Bones-ultrasonography; Ellis-Van-Creveld-Syndrome-radiography; Ellis-Van-Creveld-Syndrome-ultrasonography; Fetal-Diseases-radiography; Fetal-Diseases-ultrasonography; Infant,-Newborn; Prenatal-Diagnosis; Xeroradiography-
MESH: *Bone-and-Bones-pathology; *Ellis-Van-Creveld-Syndrome-pathology; *Fetal-Diseases-pathology
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 93220716
UD: 9307
MEDLINE EXPRESS (R) 1991-1995 9 of 24
TI: The Ellis-Van Creveld Foundation [letter]
AU: Sutton-Y; Sutton-C
SO: Health-Visit. 1993 Jan; 66(1): 32
ISSN: 0017-9140
PY: 1993
LA: ENGLISH
CP: ENGLAND
MESH: Child,-Preschool; Ellis-Van-Creveld-Syndrome-genetics
MESH: *Ellis-Van-Creveld-Syndrome-psychology; *Family-psychology; *Self-Help-Groups-organization-and-administration
TG: Case-Report; Female; Human
PT: LETTER
AN: 93194595
UD: 9306
SB: NURSING
MEDLINE EXPRESS (R) 1991-1995 10 of 24
TI: [Ellis van Creveld syndrome (chondroectodermal dysplasia) in a 7 year old girl]
TO: Zespol Ellisa van Crevelda (dysplazja chonderoektodermalna) U 7-letniej dziewczynki.
AU: Zoch-Zwierz-W; Iwaszkiewicz-Powlowska-A; Wiercinski-R; Hubert-E; Winiecka-W; Biernaka-A
AD: I Kliniki Chorob Dzieci Ak. Med., Bialymstoku.
SO: Wiad-Lek. 1992 Nov; 45(21-22): 866-9
ISSN: 0043-5147
PY: 1992
LA: POLISH; NON-ENGLISH
CP: POLAND
MESH: Child-; English-Abstract
MESH: *Ellis-Van-Creveld-Syndrome
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 93227630
UD: 9307
MEDLINE EXPRESS (R) 1991-1995 11 of 24
TI: Ellis-van Creveld syndrome in a Western Australian aboriginal community. Postaxial polydactyly as a heterozygous manifestation?
AU: Goldblatt-J; Minutillo-C; Pemberton-PJ; Hurst-J
AD: Princess Margaret Hospital for Children, Perth, WA.
SO: Med-J-Aust. 1992 Aug 17; 157(4): 271-2
ISSN: 0025-729X
PY: 1992
LA: ENGLISH
CP: AUSTRALIA
AB: OBJECTIVE: To report two children with Ellis-van Creveld syndrome in an extended kindred of Western Australian Aboriginal descent. Furthermore, to document two family members with isolated postaxial polydactyly of the feet as probable heterozygous manifestations of the Ellis-van Creveld gene. CLINICAL FEATURES: Male and female second cousins with short limbs, postaxial polydactyly and cardiac malformations are described. CONCLUSIONS: It is proposed that founder effect and random genetic drift resulted in a relatively high frequency of the Ellis-van Creveld gene in the Aboriginal people of Western Australia. In addition, further evidence is provided for the postulate that isolated postaxial polydactyly is a heterozygous manifestation of the gene.
MESH: Heterozygote-; Infant-; Pedigree-
MESH: *Aborigines-genetics; *Australoid-Race-genetics; *Ellis-Van-Creveld-Syndrome-genetics; *Fingers-abnormalities; *Toes-abnormalities
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93062334
UD: 9302
MEDLINE EXPRESS (R) 1991-1995 12 of 24
TI: Chondro-ectodermal dysplasia.
AU: Maitra-TK; Acharyya-B; Chatterjee-RN; Das-AK
AD: BC Roy Polio Clinic, Calcutta.
SO: J-Indian-Med-Assoc. 1992 Apr; 90(4): 108
ISSN: 0019-5847
PY: 1992
LA: ENGLISH
CP: INDIA
MESH: Child-; Ellis-Van-Creveld-Syndrome-pathology; Ellis-Van-Creveld-Syndrome-radiography
MESH: *Ellis-Van-Creveld-Syndrome-diagnosis
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 92355922
UD: 9211
MEDLINE EXPRESS (R) 1991-1995 13 of 24
TI: Ellis-van Creveld syndrome.
AU: Ghosh-S; Saha-AK; Bhowmik-P
AD: Medical College, Calcutta.
SO: J-Indian-Med-Assoc. 1992 Mar; 90(3): 71
ISSN: 0019-5847
PY: 1992
LA: ENGLISH
CP: INDIA
MESH: Child-; Ellis-Van-Creveld-Syndrome-diagnosis; Ellis-Van-Creveld-Syndrome-genetics; Ellis-Van-Creveld-Syndrome-ultrasonography; India-
MESH: *Ellis-Van-Creveld-Syndrome
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 92340919
UD: 9210
MEDLINE EXPRESS (R) 1991-1995 14 of 24
TI: Quiz. Ellis-Van Creveld syndrome or chondroectodermic dysplasia.
AU: Preti-P; Stilli-S; Donzelli-O; Marchiodi-L
AD: Divisione di Ortopedia e Traumatologia Infantile, Istituto Ortopedico Rizzoli, Bologna.
SO: Chir-Organi-Mov. 1991 Jan-Mar; 76(1): 87-91
ISSN: 0009-4749
PY: 1991
LA: ENGLISH; ITALIAN
CP: ITALY
MESH: Diagnosis,-Differential; Infant-; Nomenclature-
MESH: *Ellis-Van-Creveld-Syndrome-diagnosis
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 91372018
UD: 9112
MEDLINE EXPRESS (R) 1991-1995 15 of 24
TI: Postaxial polydactyly as heterozygote manifestation in Ellis-Van Creveld syndrome? [letter; comment]
CM: Comment on: Am J Med Genet 1990 May;36(1):37-42
AU: Fryns-JP
SO: Am-J-Med-Genet. 1991 Jun 15; 39(4): 500-1
ISSN: 0148-7299
PY: 1991
LA: ENGLISH
CP: UNITED-STATES
MESH: Infant,-Newborn
MESH: *Ellis-Van-Creveld-Syndrome-genetics; *Fingers-abnormalities; *Heterozygote-
TG: Human
PT: COMMENT; LETTER
AN: 91345062
UD: 9111
MEDLINE EXPRESS (R) 1990 16 of 24
TI: [Asphyxiating thoracic dysplasia associated with hepatic ductal hypoplasia, agenesis of the corpus callosum and Dandy-Walker syndrome]
TO: Dystrophie thoracique asphyxiante de Jeune associee a une hypoplasie ductulaire hepatique, une agenesie du corps calleux et un syndrome de Dandy-Walker.
AU: Trabelsi-M; Hammou-Jeddi-A; Kammoun-A; Bennaceur-B; Gharbi-HA
AD: Service de pediatrie, hopital d'enfants de Tunis, Tunisie.
SO: Pediatrie-Bucur. 1990; 45(1): 35-8
ISSN: 0031-4021
PY: 1990
LA: FRENCH; NON-ENGLISH
CP: FRANCE
AB: The authors report on a case of a newborn with asphyxiating thoracic dysplasia who died 36 h after birth. This chondrodysplasia was associated with hepatic ductular hypoplasia, agenesis of the corpus callosum and Dandy-Walker malformation. To our knowledge, such an association has not previously been reported in the literature.
MESH: English-Abstract; Infant,-Newborn
MESH: *Bile-Ducts,-Intrahepatic-abnormalities; *Cholestasis,-Intrahepatic-complications; *Corpus-Callosum-abnormalities; *Dandy-Walker-Syndrome-complications; *Ellis-Van-Creveld-Syndrome-complications; *Hydrocephalus-complications; *Thorax-abnormalities
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
AN: 90221681
UD: 9007
MEDLINE EXPRESS (R) 1990 17 of 24
TI: [A case of Ellis-van Creveld syndrome]
TO: Przypadek zespolu Ellisa-van Crevelda.
AU: Postek-G
AD: Oddzialu Wewnetrznego Szpitala Dzieciecego w Toruniu.
SO: Pol-Tyg-Lek. 1990 Sep 17-24; 45(38-39): 787-9
ISSN: 0032-3756
PY: 1990
LA: POLISH; NON-ENGLISH
CP: POLAND
AB: A case of the Ellis-van Creveld syndrome in a 18-year girl with congenital disturbances is presented. In the patients described they were coexisting with insulin dependent diabetes mellitus.
MESH: Adolescence-; Diabetes-Mellitus,-Insulin-Dependent-complications; Ellis-Van-Creveld-Syndrome-complications; English-Abstract
MESH: *Diabetes-Mellitus,-Insulin-Dependent-diagnosis; *Ellis-Van-Creveld-Syndrome-diagnosis
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 91252395
UD: 9109
MEDLINE EXPRESS (R) 1990 18 of 24
TI: [Ellis van Creveld syndrome]
TO: Sindrome de Ellis van Creveld.
AU: Salvador-Amores-AM; Grande-Baos-C; Blanco-Caneda-ML; Alonso-Ortiz-T; Moro-Serrano-M; Arrabal-Teran-MC
AD: Departamento de Pediatria, Hospital Clinico Universitario de San Carlos, Madrid.
SO: An-Esp-Pediatr. 1990 May; 32(5): 445-50
ISSN: 0302-4342
PY: 1990
LA: SPANISH; NON-ENGLISH
CP: SPAIN
AB: The last two cases of Ellis van Creveld syndrome diagnosed in the Neonatology Service of our department are presented and the clinical and radiological features described. One of the children, the boy, was suffering from ocular malformations which are not common in this syndrome. Both have heart malformations which are frequent in this syndrome. Paradoxically the boy, who was quite below the third percentile in height, has less alterations in the long bones than did the baby girl, who was within the normal height range. Attention is called to the lack of adipose panniculus in the boy, but the girl's weight is within the normal limits. Both died because of the heart anomalities with accompanying respiratory distress.
MESH: Ellis-Van-Creveld-Syndrome-pathology; Ellis-Van-Creveld-Syndrome-radiography; English-Abstract; Heart-Defects,-Congenital-pathology; Infant,-Newborn; Prognosis-; Respiratory-Distress-Syndrome-etiology
MESH: *Ellis-Van-Creveld-Syndrome
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 90379590
UD: 9012
MEDLINE EXPRESS (R) 1990 19 of 24
TI: Ellis-Van Creveld syndrome: description of four cases. Orthopaedic aspects.
AU: Pinelli-G; Cottafava-F; Senes-FM; Becchetti-S; Cosso-D; Costa-M
AD: 1. Divisione Ortopedia e Traumatologia, Istututo G. Gaslini, Genova.
SO: Ital-J-Orthop-Traumatol. 1990 Mar; 16(1): 113-21
ISSN: 0390-5489
PY: 1990
LA: ENGLISH
CP: AUSTRIA
AB: Four cases of Ellis-Van Creveld syndrome are reported in which three were in the same family. The clinical and radiological findings were characteristic of the traditional features of the disease. The authors discuss the role of the orthopaedic surgeon in correcting the skeletal deformities.
MESH: Adolescence-; Child-; Dwarfism-radiography; Ellis-Van-Creveld-Syndrome-surgery; Scoliosis-radiography; Tooth-Abnormalities-radiography
MESH: *Ellis-Van-Creveld-Syndrome-radiography
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 90337730
UD: 9011
MEDLINE EXPRESS (R) 1990 20 of 24
TI: Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?
AU: Brueton-LA; Dillon-MJ; Winter-RM
AD: Kennedy Galton Centre, Northwick Park Hospital, Harrow, Middlesex.
SO: J-Med-Genet. 1990 Apr; 27(4): 252-5
ISSN: 0022-2593
PY: 1990
LA: ENGLISH
CP: ENGLAND
AB: We describe two children with multiple abnormalities, neither of whom fits neatly into a classical diagnostic category, but who show overlapping features of Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia. It seems possible that these three entities form part of a disease spectrum rather than being distinct conditions.
MESH: Hand-radiography; Infant,-Newborn; Kidney-abnormalities; Liver-abnormalities; Pancreas-abnormalities; Pelvic-Bones-radiography; Thoracic-Radiography
MESH: *Ellis-Van-Creveld-Syndrome-diagnosis; *Pelvic-Bones-abnormalities; *Ribs-abnormalities; *Situs-Inversus-diagnosis
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 90218961
UD: 9007
MEDLINE EXPRESS (R) 1/96-9/96 21 of 24
TI: Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.
AU: Franceschini-P; Guala-A; Vardeu-MP; Signorile-F; Franceschini-D; Bolgiani-MP
AD: Istituto di Discipline Pediatriche, Servizio di Genetica Clinica, Chivasso, Italy.
SO: Am-J-Med-Genet. 1995 Nov 20; 59(3): 359-64
ISSN: 0148-7299
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: We report on a patient with manifestations typical of Mohr syndrome and of the short rib (polydactyly) syndromes (SR(P)S) Majewski, Verma-Naumoff, Beemer, and Jeune. It seems possible that the different types of SR(P) syndromes, rather than being distinct conditions, are part of a large disease spectrum. The frequent overlap between orofaciodigital syndromes and SR(P) syndromes may be interpreted as the outcome of deletions of different size within the same chromosome region.
MESH: Abnormalities,-Multiple-pathology; Ellis-Van-Creveld-Syndrome-classification; Ellis-Van-Creveld-Syndrome-pathology; Fatal-Outcome; Infant,-Newborn; Orofaciodigital-Syndromes-classification; Sequence-Deletion; Short-Rib-Polydactyly-Syndrome-classification; Syndrome-
MESH: *Abnormalities,-Multiple-classification; *Chromosomes,-Human,-Pair-17-genetics; *Orofaciodigital-Syndromes-pathology; *Short-Rib-Polydactyly-Syndrome-pathology
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 96162321
UD: 9606
MEDLINE EXPRESS (R) 1/96-9/96 22 of 24
TI: Atrioventricular septal defect and type A postaxial polydactyly without other major associated anomalies: a specific association.
AU: Levin-SE; Dansky-R; Milner-S; Benatar-A; Govendrageloo-K; du-Plessis-J
AD: Department of Pediatrics, Johannesburg Hospital, University of the Witwatersrand, South Africa.
SO: Pediatr-Cardiol. 1995 Sep-Oct; 16(5): 242-6
ISSN: 0172-0643
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: Four children are described, (three black and one white, two boys and two girls) with type A postaxial polydactyly. All four of them, in addition, had either a partial or complete atrioventricular septal defect (AVSD). None of these children had associated major malformations. Minor anomalies were observed (e.g., two patients with hypersegmentation of the sternal segments, one patient with undescended testes, one patient with hypoplastic lumbar vertebra, and one patient with a degree of craniofacial abnormality). Chromosome analysis was carried out for three of the four patients, and was normal in all of them. It is suggested that there is a specific association between type A postaxial polydactyly and the AVSD found in each of these patients. This picture does not conform to, but bears some resemblance to, the Ellis-van Creveld syndrome.
MESH: Child-; Diseases-in-Twins-genetics; Ellis-Van-Creveld-Syndrome-diagnosis; Ellis-Van-Creveld-Syndrome-surgery; Heart-Septal-Defects-diagnosis; Heart-Septal-Defects-surgery; Infant-; Karyotyping-; Polydactyly-diagnosis
MESH: *Ellis-Van-Creveld-Syndrome-genetics; *Heart-Septal-Defects-genetics; *Polydactyly-genetics
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 96030205
UD: 9603
MEDLINE EXPRESS (R) 1/96-9/96 23 of 24
TI: [The Ellis-van Creveld syndrome. A case report]
TO: Sindrome di Ellis-van Creveld. Descrizione di un caso.
AU: Gambardella-A; Cusati-B; Rotondo-A
AD: Facolta di Medicina e Chirurgia, Istituto di Scienze Radiologiche, Universita degli Studie Federico II, Napoli.
SO: Radiol-Med-Torino. 1995 Sep; 90(3): 311-3
ISSN: 0033-8362
PY: 1995
LA: ITALIAN; NON-ENGLISH
CP: ITALY
MESH: Bone-and-Bones-radiography; Child-
MESH: *Ellis-Van-Creveld-Syndrome-radiography
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 96096838
UD: 9603
MEDLINE EXPRESS (R) 1/96-9/96 24 of 24
TI: [Value of echocardiography in Ellis-Van Creveld syndrome (letter)]
TO: Interet de l'echographie cardiaque dans le syndrome d'Ellis et Van Creveld.
AU: Bouguerra-L; Turki-R; Hichri-A
SO: Arch-Pediatr. 1995 Oct; 2(10): 1022
ISSN: 0929-693X
PY: 1995
LA: FRENCH; NON-ENGLISH
CP: FRANCE
MESH: Echocardiography-; Infant-
MESH: *Ellis-Van-Creveld-Syndrome-ultrasonography
TG: Case-Report; Female; Human
PT: LETTER
AN: 96099592
UD: 9603