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- Title
A male with type I orofaciodigital syndrome.
- Authors
Goodship, J; Platt, J; Smith, R; Burn, J
- Abstract
We describe a three generation family with three females showing minor features of orofaciodigital syndrome type I and a severely affected male in the third generation. In addition to the classical features of OFD I, the male had bilateral duplication of the halluces, a feature diagnostic of OFD II, and an atrioventricular septal defect. Heart defects have not previously been reported in OFD I but have been reported in OFD II. It is important to examine the mothers of all male neonates with orofaciodigital syndrome with care before making a diagnosis of OFD II.
- Publication
Journal of medical genetics, 1991, Vol 28, Issue 10, p691
- ISSN
0022-2593
- Publication type
Journal Article
- DOI
10.1136/jmg.28.10.691