Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect.
We report on a boy with pseudo-cleft of the upper lip, cleft palate, bifid uvula, lobulated tongue, hypoplasia of the epiglottis, both preaxial and central polydactyly of the hands (Y-shaped fourth metacarpals), bilateral preaxial polydactyly of the feet, postaxial polydactyly of the left foot, hearing impairment, and congenital heart disease with endocardial cushion defect. These clinical manifestations resembled oral-facial-digital syndrome type II (OFDS II, Mohr syndrome) or type VI (Váradi syndrome), associated with an atrioventricular canal. Clinical variability of OFDS II has been observed repeatedly. To the best of our knowledge, this is the first reported case of OFDS II with Y-shaped fourth metacarpals. In addition to Y-shaped fourth metacarpals, Mohr syndrome plus atrioventricular canal and hypoplasia of the epiglottis may represent an additional subgroup of OFDS.
Hsieh
Y C
YC
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Hou
J W
JW
D004694:Endocardial Cushion Defects / Q000235:genetics*; D004825:Epiglottis / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008663:Metacarpus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D009958:Orofaciodigital Syndromes / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics*; D010641:Phenotype; D011859:Radiography