Ellis-van Creveld syndrome

被引:131
作者
Baujat, Genevieve [1 ]
Le Merrer, Martine [1 ]
机构
[1] Hop Necker Enfants Malad, Ctr Reference malad Osseuses Constitut, F-75743 Paris 15, France
来源
ORPHANET JOURNAL OF RARE DISEASES | 2007年 / 2卷
关键词
CHONDROECTODERMAL DYSPLASIA; VANCREVELD SYNDROME; SHORT RIB; GENE; MUTATIONS; EVC2; MANIFESTATION; DYSOSTOSIS;
D O I
10.1186/1750-1172-2-27
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially type III (Verma-Naumoff syndrome), are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict.
引用
收藏
页数:5
相关论文
共 38 条
[1]   ELLIS-VAN CREVELD SYNDROME - REPORT OF PREVIOUSLY UNDESCRIBED ANOMALIES IN 2 SIBLINGS [J].
BLACKBURN, MG ;
BELLIVEAU, RE .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1971, 122 (03) :267-+
[2]  
Digilio MC, 1999, AM J MED GENET, V84, P350, DOI 10.1002/(SICI)1096-8628(19990604)84:4<350::AID-AJMG8>3.0.CO
[3]  
2-E
[4]   Diagnostic dilemmas in the short rib -: Polydactyly syndrome group [J].
Elçioglu, NH ;
Hall, CM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 111 (04) :392-400
[5]  
ELLIS RICHARD W. B., 1940, ARCH DIS CHILDHOOD [LONDON], V15, P65
[6]  
ENGLE M A, 1969, Birth Defects Original Article Series, V5, P65
[7]  
Francomano C. A., 1995, American Journal of Human Genetics, V57, pA191
[8]   POSTAXIAL POLYDACTYLY AS HETEROZYGOTE MANIFESTATION IN ELLIS-VAN CREVELD SYNDROME [J].
FRYNS, JP .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 39 (04) :500-500
[9]   A new gene, EVC2, is mutated in Ellis-van Creveld syndrome [J].
Galdzicka, M ;
Patnala, S ;
Hirshman, MG ;
Cai, JF ;
Nitowsky, H ;
Egeland, JA ;
Ginns, EI .
MOLECULAR GENETICS AND METABOLISM, 2002, 77 (04) :291-295
[10]   ELLIS-VANCREVELD SYNDROME IN A WESTERN AUSTRALIAN ABORIGINAL COMMUNITY - POSTAXIAL POLYDACTYLY AS A HETEROZYGOUS MANIFESTATION [J].
GOLDBLATT, J ;
MINUTILLO, C ;
PEMBERTON, PJ ;
HURST, J .
MEDICAL JOURNAL OF AUSTRALIA, 1992, 157 (04) :271-272