See‐saw winking in a familial oral‐facial‐digital syndrome

This paper reports an unusual disturbance of blinking and of eye movements in a 3‐year‐old child with a previously unreported syndrome of malformation and mental retardation. The eye abnormalities consisted of hypertelorism, antimongoloid slanting of the palpebral fissures, bilateral ex‐otropia, and ceaseless winking of the eyelids described as “sec‐saw winking”. The syndrome consisted of the eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula with a normal palate, postaxial hexadactyly of the hands and feet, pectus excavatum, short sternum, kyphosis, and profound motor‐mental retardation. A sister was similarly affected, without the described abnormal eye movements. This syndrome differs from the oral‐facial‐digital syndromes I and II in the absence of oral frenula and clefts and hypoplasia of the alae nasi and in the type of Polydactyly, clinodactyly, and syndactyly.