Oral-facial-digital syndrome type II variant associated with congenital tongue lipoma.
We report a case with several congenital anomalies, including polysyndactyly, hypertelorism, partial median cleft of the upper lip, and 2 solitary tongue masses. These features are consistent with oral-facial-digital (OFD) type II syndrome. This case, however, had tongue lipomas with pathosis instead of the usually described tongue hamartomas. In addition, our patient had a sacral dermal pit, which is not a known characteristic of patients with OFD type II. The patient had a younger sister with the same anomalies who died at the age of 10 days and thus was unavailable for examination. We propose to distinguish patients with tongue lipomas and features of OFD type II as a variant of that syndrome.
D002675:Child, Preschool; D006801:Humans; D008067:Lipoma / Q000151:congenital* / Q000209:etiology / Q000473:pathology; D008297:Male; D009958:Orofaciodigital Syndromes / Q000145:classification / Q000150:complications* / Q000473:pathology; D014062:Tongue Neoplasms / Q000151:congenital* / Q000209:etiology / Q000473:pathology