Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

ULUCAN, HAKAN; Guel, Davut; Sapp, Julie; Cockerham, John; Johnston, Jennifer; Biesecker, Leslie

doi:10.1186/1471-2350-9-92

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

ULUCAN H., Guel D., Sapp J. C., Cockerham J., Johnston J. J., Biesecker L. G.

BMC MEDICAL GENETICS, vol.9, 2008 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 9
Publication Date: 2008
Doi Number: 10.1186/1471-2350-9-92
Journal Name: BMC MEDICAL GENETICS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Istanbul University Affiliated: No

Abstract

Background: Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance.