Chromosomal Analysis in a Case of Orofacial-Digital Syndrome

Abstract

GORLIN, Anderson and Scott1 recently described 4 patients with hypertrophied frenula, oligophrenia, familial trembling and hand anomalies.1 The term orofacial-digital syndrome has been applied to this condition. In May, 1961, Ruess et al.2 described 12 similar patients, among whom a chromosomal abnormality had been identified in a mother and child. Subsequently, Gorlin3 elaborated on his cases, suggesting that a chromosomal abnormality was present in 1 of the No. 1 pair of chromosomes.Case ReportA 4-year-old girl who had been noted at birth to have several areas of alopecia, "cysts" on the gums and tongue, partial cleft palate, webbed fingers . . .