Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report.

Autor: Malvankar DD; Department of Dermatology, Bangalore Medical College and Research Institute, Bangalore, India., Sacchidanand S, Mallikarjun M
Jazyk: angličtina
Zdroj: Dermatology online journal [Dermatol Online J] 2012 Feb 15; Vol. 18 (2), pp. 5. Date of Electronic Publication: 2012 Feb 15.
Abstrakt: Ectrodactyly, Ectodermal dysplasia, and Cleft lip-cleft palate (EEC) syndrome is a rare ectodermal dysplasia presenting with various combinations of its three components. It is an autosomal dominant disorder with variable expression and penetrance. Patients have features of ectodermal abnormalities and a split hand/foot deformity of the limbs. We report a case of this rare disorder in a 40-year-old male who had ectrodactyly, ectodermal dysplasia, but no clefting of lips or palate.
Databáze: MEDLINE