A male with type I orofaciodigital syndrome. Issue 10 (October 1991)

• Record Type: Journal Article
• Authors: Goodship, J; Platt, J; Smith, R; Burn, J
• Is Part Of: Journal of medical genetics. Volume 28:Issue 10(1991)
• Page Start: 691
• Page End: 694
• Publication Date: 1991-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.28.10.691
• Languages: English
• ISSNs: 1468-6244

Abstract

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.