Familial cases of oro-facial-digital syndrome type I

Abstract

Oro-facial-digital syndrome type I (OFD I) is a rare hereditary disease, inherited as an X-linked dominant trait with lethal effect in males.
Six cases of OFD I are reportred. All were females and consanguineous. Each patient had an abnormal buccal frenula and alveolar notch, and/or congenital absence of teeth. Four cases had coarse hair, a lobulated tongue, or tongue tumors. One of these cases had an incomplete median cleft of the upper lip, a cleft of the soft palate, brachydactylia, increased nasion-sella-basion angle, and mental retardation.