1990 年 36 巻 4 号 p. 1076-1082
A patient with oral-facial-digital (OFD) syndrome is reported. The patient was a 5-year-old female who had a tumor of the tongue, fistula of the lower lip, and abnormal frenulum that were treated surgically. OFD is, rare hereditary disease that is classified as OFD I or II by the pattern of inheritance and the clinical features. Our patient was diagnosed as OFD I. In Japan, there have been few reports dealing with this syndrome.
Most cases in Japan have the features of bifid tongue and/or tumor of the tongue, abnormal frenula of the lips, cleft alveolar cavities, coarse or friable hair, hypertelorism, and an abnormal nose as well as clinodactyly and/or syndactyly.