A male with type I orofaciodigital syndrome.
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.
Regional Genetics Advisory Service, Newcastle upon Tyne.
J
J
Goodship
J
J
Platt
R
R
Smith
J
J
Burn
D000328:Adult; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009958:Orofaciodigital Syndromes / Q000175:diagnosis* / Q000503:physiopathology; D010375:Pedigree; D011296:Prenatal Diagnosis