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 SilverPlatterRecord 1 of 23 in MEDLINE EXPRESS (R) 1996-1998
TITLE: First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers.
AUTHOR(S): Torrente-I; Mangino-M; De-Luca-A; Mingarelli-R; Gennarelli-M; Giannotti-A; Novelli-G; Dallapiccola-B
ADDRESS OF AUTHOR: Dipartimento di Sanita Pubblica e Biologia Cellulare, Universita di Roma Tor Vergata, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Prenat-Diagn. 1998 May; 18(5): 504-6
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: We report a personal experience of first-trimester prenatal diagnosis of Ellis-van Creveld (EvC) syndrome based on typing of microsatellite markers flanking the EvC locus. An heterozygous fetus was diagnosed with a diagnostic accuracy of 96 per cent. The DNA prediction was confirmed by ultrasound at 22 weeks of gestation and by clinical evaluation at birth.
Record 2 of 23 in MEDLINE EXPRESS (R) 1996-1998
TITLE: [Ellis-van Creveld syndrome: an easy early diagnosis?]
AUTHOR(S): Alcalde-MM; Castillo-JA; Garcia-Urruticoechea-P; Vilaplana-R; Molina-E; Ortega-J
ADDRESS OF AUTHOR: Servicio de Cardiologia, Hospital Santa Maria del Rosell, Cartagena, Murcia.
SOURCE (BIBLIOGRAPHIC CITATION): Rev-Esp-Cardiol. 1998 May; 51(5): 407-9
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
ABSTRACT: Ellis-Van Creveld syndrome is a rare chondroectodermal dysplasia. Congenital heart disease is present in more than one-half of cases. The majority are partial atrioventricular septal defects and affect the atrial septum. Although isolated cases of the syndrome are uncommon, an early diagnosis is made in most of the patients because of their cardinal manifestations. The cases of two gypsy brothers with Ellis-Van Creveld syndrome and congenital heart disease (ostium primum atrial septal defect and single atrium), diagnosed during adulthood, are presented.
Record 3 of 23 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Oral manifestations of Ellis-van Creveld syndrome: report of two siblings with unusual dental anomalies.
AUTHOR(S): Hattab-FN; Yassin-OM; Sasa-IS
ADDRESS OF AUTHOR: Department of Restorative and Pediatric Dentistry, Faculty of Dentistry, Jordan University of Science and Technology, Irbid.
SOURCE (BIBLIOGRAPHIC CITATION): J-Clin-Pediatr-Dent. 1998 Winter; 22(2): 159-65
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: Ellis-van Creveld syndrome (EvC), also called chondroectodermal dysplasia, is a rare occurrence inherited as an autosomal recessive disease. Despite the fact that oral manifestations play an important role in the diagnosis criteria for EvC, few detailed reports have been published in the dental literature. This articles presents two siblings with EvC, a boy aged 9 years and a girl aged 7 1/2 years, a product of unaffected first cousin parents. The patients manifests: chondrodysplasia of tubular bones resulting in disproportionate dwarfism, polydactyly and syndactyly of hands and feet, severe dystrophic nails, multiple broad labial frenula with abnormal attachments, congenital missing incisors, anomalous teeth, bilateral partial clefts of the alveolar bone, and malocclusion. Other features noted in either cases are: congenital heart defect, median notch of the upper lip, shovel-shaped incisors and taurodontism. Of the unusual dental findings observed in our patients are talon cusp, reduced crown size, supernumerary tooth, and early eruption of teeth. Because half of the cases with EvC have cardiac malformation, dental treatment must be performed under prophylactic antibiotic coverage. Dentists play an important role in early diagnosis and control of dental problem of this condition.
Record 4 of 23 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Nephronophthisis associated with Ellis-van Creveld syndrome.
AUTHOR(S): Moudgil-A; Bagga-A; Kamil-ES; Rimoin-DL; Lachman-RS; Cohen-AH; Jordan-SC
ADDRESS OF AUTHOR: Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Nephrol. 1998 Jan; 12(1): 20-2
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: Ellis-van Creveld (EvC) and Jeune's asphyxiating thoracic dystrophy (ATD) are related disorders characterized by narrow thoracic cage and short-limbed dwarfism. Some patients have overlapping features of both ATD and EvC, indicating that these syndromes may be a part of a disease spectrum. Nephronophthisis has been occasionally reported in patients with ATD, but not with EvC syndrome. We report a patient who was diagnosed with EvC syndrome at birth. He developed hypertension at 5 months of age and gradually progressive renal failure, requiring renal transplantation at 8 years. Histopathological findings in the nephrectomy specimen were indicative of nephronophthisis. The association of nephronophthisis in a patient with EvC syndrome has not been reported previously. This association further supports the hypothesis that ATD and EvC syndromes are related and represent a spectrum of disorders.
Record 5 of 23 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.
AUTHOR(S): Howard-TD; Guttmacher-AE; McKinnon-W; Sharma-M; McKusick-VA; Jabs-EW
ADDRESS OF AUTHOR: Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21287-3914, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1997 Dec; 61(6): 1405-12
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: We have studied a four-generation family with features of Weyers acrofacial dysostosis, in which the proband has a more severe phenotype, resembling Ellis-van Creveld syndrome. Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Ellis-van Creveld syndrome is a similar condition, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease. Linkage and haplotype analysis determined that the disease locus in this pedigree resides on chromosome 4p16, distal to the genetic marker D4S3007 and within a 17-cM region flanking the genetic locus D4S2366. This region includes the Ellis-van Creveld syndrome locus, which previously was reported to map within a 3-cM region between genetic markers D4S2957 and D4S827. Either the genes for the condition in our family and for Ellis-van Creveld syndrome are near one another or these two conditions are allelic with mutations in the same gene. These data also raise the possibility that Weyers acrofacial dysostosis is the heterozygous expression of a mutation that, in homozygous form, causes the autosomal recessive disorder Ellis-van Creveld syndrome.
Record 6 of 23 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Prenatal ultrasonic diagnosis of a case of Ellis-van Creveld syndrome with a single atrium.
AUTHOR(S): Horigome-H; Hamada-H; Sohda-S; Oyake-Y; Kurosaki-Y
ADDRESS OF AUTHOR: Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba 305, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Radiol. 1997 Dec; 27(12): 942-4
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: We present an infant with the lethal Ellis-van Creveld syndrome who was diagnosed prenatally from the sonographic detection of a narrow chest, postaxial hexadactyly of the hands and feet, short limbs and a single atrium. The postnatal radiographic features of the skeleton favoured the diagnosis of Verma-Naumoff type or Saldino-Noonan type short rib-polydactyly syndrome (SRPS). We discuss the criteria for the differential diagnosis of patients with SRPS, which can be difficult because of the overlap of the various phenotypes.
Record 7 of 23 in MEDLINE EXPRESS (R) 1996-1998
TITLE: [A case of Ellis-van Creveld syndrome with partial atrioventricular septal defect and double orifice mitral valve]
AUTHOR(S): Kamesui-T; Seki-M; Tsubota-M; Endo-M; Watanabe-S; Sato-H
ADDRESS OF AUTHOR: Department of Thoracic and Cardiovascular Surgery, Ishikawa Prefectural Central Hospial, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Nippon-Kyobu-Geka-Gakkai-Zasshi. 1997 Apr; 45(4): 589-93
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
ABSTRACT: Ellis-van Creveld Syndrome (ECS) is characterized by chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital cardiac defects. As congenital cardiac defects, single atrium and endocardial cusion defect are frequent in literatures. We described a case, a 68-year-old woman, presenting with ECS with partial atrioventricular septal defect and double orifice mitral valve. The partial atrioventricular septal defect was repaired by closure with a Dacron patch. The accessory orifice was located at the anterior cusp of the mitral valve, which was left, untouched, because no regurgitation had been detected preoperatively. Her postoperative course was uneventful, and the patient was discharged on 25th postoperative day.
Record 8 of 23 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Molecular genetics of congenital heart disease.
AUTHOR(S): Gelb-BD
ADDRESS OF AUTHOR: Mount Sinai Medical Center, New York, NY 10029-6574, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Curr-Opin-Cardiol. 1997 May; 12(3): 321-8
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: This review of advances made toward understanding the molecular basis of congenital heart disease covers studies on subjects ranging from atrioventricular septal defects to zebrafish models. Genetically abnormal mice with atrioventricular septal defects have abnormal endocardial cushion development with the delayed appearance of mesenchymal cells and certain critical adhesion proteins. The prevalence of 22q11 deletions among patients with the conotruncal defects was estimated at 8% to 17%. Deletions were rare among patients lacking typical DiGeorge syndrome (DGS) or velocardiofacial (VCF) dysmorphic features, and more common in tetralogy of Fallot with pulmonary atresia than tetralogy of Fallot alone. Studies with patients with unusual 22q11 defects revealed that regional effects on several genes seem to underlie these complex phenotypes. A second DGS/VCF region on chromosome 10p13 was defined molecularly. Laterality defects (heterotaxy) have been associated with connexin43 mutations, and mice lacking connexin43 developed pulmonary atresia with intact ventricular septum. Three other groups failed to find connexin43 mutations in heterotaxy patients, suggesting genetic heterogeneity. Studies of cardiac looping with lower vertebrates revealed the critical role of the notochord. Ellis-van Creveld syndrome, an autosomal dominant skeletal dysplasia with atrial septal defects, and familial total anomalous pulmonary venous return, an autosomal dominant trait with reduced penetrance, were genetically linked to chromosomal bands 4p16 and 4p13-q12, respectively. The zebrafish has emerged as an important model for the study of the earliest stages of the cardiovascular system, and the miles apart and gridlock mutants, which have failure of heart tube fusion and aortic atresia, respectively, are discussed.
Record 9 of 23 in MEDLINE EXPRESS (R) 1996-1998
TITLE: [Ellis-van Creveld syndrome]
AUTHOR(S): Ohdo-S
ADDRESS OF AUTHOR: Division of Pediatrics, National Sanatorium Miyazaki Hospital.
SOURCE (BIBLIOGRAPHIC CITATION): Ryoikibetsu-Shokogun-Shirizu. 1996(15): 261-3
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
Record 10 of 23 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Bilateral duplication of the primary ulnar ossification center in Ellis-van Creveld syndrome.
AUTHOR(S): Gripp-KW; Scott-CI Jr; Nicholson-L
ADDRESS OF AUTHOR: Department of Pediatrics, Thomas-Jefferson University, Philadelphia, PA, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Dysmorphol. 1996 Oct; 5(4): 335-7
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: A patient with Ellis-van Creveld (EvC) syndrome and bilateral duplication of the primary ulnar ossification center is presented. Abnormal ossification involving secondary ossification centers of the femur and tibia as well as duplication of primary ossification centers in the carpal bones are well described in EvC. No abnormality of ulnar ossification has been noted in patients with EvC or any other skeletal dysplasia. The occurrence of bilateral duplication of ulnar ossification centers extends the clinical findings of the EvC syndrome. The gap between the ossified areas could be misinterpreted as a fracture and thus lead to a suspicion of osteogenesis imperfecta prenatally or traumatic fracture postnatally.
Record 11 of 23 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report.
AUTHOR(S): Varela-M; Ramos-C
ADDRESS OF AUTHOR: Unit of Orthodontics, Fundacion Jimenez Diaz, Universidad Autonoma, Madrid, Spain.
SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Orthod. 1996 Aug; 18(4): 313-8
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: A case of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with a remarkable number of the classic oral and dental changes is described. This syndrome involves all embryonic tissue layers and is polysymptomatic; yet some oral and dental manifestations are pathognomonic and must be considered in primary diagnostic criteria. However, in some patients, these oral and dental manifestations are not clinically evident leading to misdiagnosis.
Record 12 of 23 in MEDLINE EXPRESS (R) 1996-1998
TITLE: The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.
AUTHOR(S): Polymeropoulos-MH; Ide-SE; Wright-M; Goodship-J; Weissenbach-J; Pyeritz-RE; Da-Silva-EO; Ortiz-De-Luna-RI; Francomano-CA
ADDRESS OF AUTHOR: Gene Mapping Unit, Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Building 49, Bethesda, Maryland, 20892, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1996 Jul 1; 35(1): 1-5
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by disproportionate dwarfism, polydactyly, and congenital heart disease. This rare disorder is found with increased frequency among the Old Order Amish community in Lancaster County, Pennsylvania. We have used linkage analysis to localize the gene responsible for the EVC phenotype in nine interrelated Amish pedigrees and three unrelated families from Mexico, Ecuador, and Brazil. We now report the linkage for the Ellis-van Creveld syndrome gene to markers on the distal short arm of human chromosome 4, with Zmax = 6.91 at theta = 0.02 for marker HOX7, in a region proximal to the FGFR3 gene responsible for the achondroplasia phenotype.
Record 13 of 23 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Common atrium with Ebstein's anomaly in a neonate with Ellis-van Creveld syndrome.
AUTHOR(S): Chang-YC; Wu-JM; Lin-SJ; Wu-MH
ADDRESS OF AUTHOR: Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan, R.O.C.
SOURCE (BIBLIOGRAPHIC CITATION): Chung-Hua-Min-Kuo-Hsiao-Erh-Ko-I-Hsueh-Hui-Tsa-Chih. 1995 Jan-Feb; 36(1): 50-2
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: 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.
Record 14 of 23 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Genetic skeletal dysplasia in Thailand: the Siriraj experience.
AUTHOR(S): Wasant-P; Waeteekul-S; Rimoin-DL; Lachman-RS
ADDRESS OF AUTHOR: Medical Genetics Unit, Siriraj Hospital Faculty of Medicine Mahidol University, Bangkok, Thailand.
SOURCE (BIBLIOGRAPHIC CITATION): Southeast-Asian-J-Trop-Med-Public-Health. 1995; 26 Suppl 1: 59-67
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: Genetic skeletal dysplasias are a heterogeneous group of genetic disorders associated with abnormalities in the skeletal system frequently presenting with disproportionate short stature. There are over 100 distinct skeletal dysplasias which have been classified primarily on the basis of the clinical or radiographic characteristics. We have identified many genetic skeletal dysplasia disorders at Department of Pediatrics, Siriraj Hospital, Bangkok, Thailand. We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, metaphyseal dysplasia with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets. We have established a Genetic Skeletal Dysplasia Clinic at Siriraj Hospital since 1992, and see referrals from around the country. Genetic counseling is provided, including prenatal diagnosis and a multidisciplinary approach.
Record 15 of 23 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Atrioventricular septal defect and type A postaxial polydactyly without other major associated anomalies: a specific association [see comments]
AUTHOR(S): Levin-SE; Dansky-R; Milner-S; Benatar-A; Govendrageloo-K; du-Plessis-J
ADDRESS OF AUTHOR: Department of Pediatrics, Johannesburg Hospital, University of the Witwatersrand, South Africa.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Cardiol. 1995 Sep-Oct; 16(5): 242-6
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: 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.
Record 16 of 23 in MEDLINE EXPRESS (R) 1993-1995
TITLE: [The Ellis-van Creveld syndrome. A case report]
AUTHOR(S): Gambardella-A; Cusati-B; Rotondo-A
ADDRESS OF AUTHOR: Facolta di Medicina e Chirurgia, Istituto di Scienze Radiologiche, Universita degli Studie Federico II, Napoli.
SOURCE (BIBLIOGRAPHIC CITATION): Radiol-Med-Torino. 1995 Sep; 90(3): 311-3
LANGUAGE OF ARTICLE: ITALIAN; NON-ENGLISH
Record 17 of 23 in MEDLINE EXPRESS (R) 1993-1995
TITLE: [Value of echocardiography in Ellis-Van Creveld syndrome (letter)]
AUTHOR(S): Bouguerra-L; Turki-R; Hichri-A
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Pediatr. 1995 Oct; 2(10): 1022
LANGUAGE OF ARTICLE: FRENCH; NON-ENGLISH
Record 18 of 23 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome [letter; comment]
AUTHOR(S): Digilio-MC; Marino-B; Giannotti-A; Dallapiccola-B
SOURCE (BIBLIOGRAPHIC CITATION): Hum-Genet. 1995 Aug; 96(2): 251-3
LANGUAGE OF ARTICLE: ENGLISH
Record 19 of 23 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Symptomatic heterozygosity in the Ellis-van Creveld syndrome?
AUTHOR(S): Spranger-S; Tariverdian-G
ADDRESS OF AUTHOR: Institute of Human Genetics and Anthropology, University of Heidelberg, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Genet. 1995 Apr; 47(4): 217-20
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: 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.
Record 20 of 23 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Ellis-van Creveld syndrome (chondroectodermal dysplasia).
AUTHOR(S): Avolio-A Jr; Berman-AT; Israelite-CL
ADDRESS OF AUTHOR: Department of Orthopedics, Hahnemann University, Philadelphia, PA 19102.
SOURCE (BIBLIOGRAPHIC CITATION): Orthopedics. 1994 Aug; 17(8): 735-7
LANGUAGE OF ARTICLE: ENGLISH
Record 21 of 23 in MEDLINE EXPRESS (R) 1993-1995
TITLE: [The Ellis-Van Creveld syndrome. Apropos 2 clinical cases]
AUTHOR(S): Santos-JM; Pipa-J; Antunes-L; Neves-O; Nascimento-C; Cabral-C; Costa-A; Barros-O; Carvalho-J; Angelo-F; et-al
ADDRESS OF AUTHOR: Internato Complementar de Cardiologia, Hospital Distrital de Viseu.
SOURCE (BIBLIOGRAPHIC CITATION): Rev-Port-Cardiol. 1994 Jan; 13(1): 45-50, 8
LANGUAGE OF ARTICLE: PORTUGUESE; NON-ENGLISH
ABSTRACT: 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.
Record 22 of 23 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?
AUTHOR(S): Fryns-JP; Moerman-P
ADDRESS OF AUTHOR: Centre for Human Genetics, Leuven, Belgium.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1993 Apr; 30(4): 322-4
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: 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).
Record 23 of 23 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome).
AUTHOR(S): Qureshi-F; Jacques-SM; Evans-MI; Johnson-MP; Isada-NB; Yang-SS
ADDRESS OF AUTHOR: Department of Pathology, Hutzel Hospital, Detroit, MI 48201.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1993 Feb 15; 45(4): 471-6
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: 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.