1997 Volume 43 Issue 6 Pages 514-516
Oto-palato-digital syndrome (OPD) is a rare disease. The principal features of OPD are hearing loss, cleft palate, and skeletal dysplasia of the hands and feet.
A one-month-old infant with OPD is descrived. His face showed frontal bossing, hypertelorism, antimongoloid slant of the palpebral fissures, and a broad nasal bridge. The external ears were slightly low-set, and he had conductive hearing impairment. The patient also had a small mouth and glossoptosis with a cleft palate. In general, he had a normal configuration of the fingers, but had giant 2nd toes and left cryptorchidism. Chromosomal studies revealed no abnormalities, and his family history was negative for congenital malformations.
