The oral-facial-digital syndrome: case report of a mother and daughter.
A case report of a daughter and mother with the oral-facial digital syndrome, type I, is presented. The features were variable between the two cases. The daughter had a previously unreported feature, ridging of the metopic suture. Hand-wrist radiographs of both the patient and mother demonstrated a normal trabeculation pattern, contradicting the suggestion of Anneren et al (1984) that irregular mineralization of the hands is pathognomonic for the OFD I syndrome.
Lipp
M J
MJ
Department of Dentistry, Beth Israel Medical Center, New York, NY 10003.
Lubit
E C
EC
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002971:Cleft Lip / Q000473:pathology; D002972:Cleft Palate / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008437:Maxilla / Q000002:abnormalities; D008875:Middle Aged; D009958:Orofaciodigital Syndromes / Q000235:genetics* / Q000473:pathology; D014059:Tongue / Q000002:abnormalities; D014071:Tooth Abnormalities / Q000473:pathology