Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).
A mother and son are described with unusual facies, patent ductus arteriosus, fusion of distal interphalangeal joints and mild learning difficulties. The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth. This autosomal dominant syndrome has been reported in one other family by F. Char (1978).
Temple
I K
IK
Wessex Regional Clinical Genetics Unit, Department of Child Health, Princess Anne Hospital, Southampton.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D004374:Ductus Arteriosus, Patent / Q000235:genetics*; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics*; D013577:Syndrome