Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.
We report on a patient with a constellation of anomalies including hamartomas of the tongue, polysyndactyly, and atrioventricular canal. A similar association has been previously described by Orstavik et al in two sibs. The clinical spectrum of the oralfacial-digital syndrome (OFDS) type II includes all these features. In particular, congenital heart defect, mainly atrioventricular canal, has been described in a few cases. It has been previously suggested that these latter patients may be affected by a variant of OFDS type II. We propose to distinguish this orocardiodigital variant and point out the association of the syndrome with atrioventricular canal.
Digilio
M C
MC
Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy.
Marino
B
B
Giannotti
A
A
Dallapiccola
B
B
D000328:Adult; D004694:Endocardial Cushion Defects / Q000150:complications; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D009958:Orofaciodigital Syndromes / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D011859:Radiography; D014034:Toes / Q000002:abnormalities / Q000000981:diagnostic imaging