Article
Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect.
American journal of medical genetics - 17 Sept 1999
Hsieh Y C, Hou J W
Abstract excerpt
We report on a boy with pseudo-cleft of the upper lip, cleft palate, bifid uvula, lobulated tongue, hypoplasia of the epiglottis, both preaxial and central polydactyly of the hands (Y-shaped fourth metacarpals), bilateral preaxial polydactyly of the feet, postaxial polydactyly of the left foot, hearing impairment, and congenital heart disease with endocardial cushion defect. These clinical manifestations...
Topics
- Endocardial Cushion Defects
- Epiglottis
- Humans
- Infant, Newborn
- Male
- Metacarpus
- Orofaciodigital Syndromes
- Phenotype
- Radiography