A Family with Oculodentodigital Dysplasia

Abstract

Oculodentodigital (ODD) dysplasia is the term coined by h'Ieyer-Schwickerath (1). The syndrome is characterized by the presence of unusual facial features demonstrated by a thin nose with hypoplastic alae and thin anteverted nostrils, microphthalmos with anomalies of the iris and bilateral epicanthic folds, syndactyly and camptodactyly of the fourth and fifth fingers and bony anomalies of the middle phalanges of the fifth fingers and toes, and hypoplasia of the enamel resembling amelogenesis imperfecta. A review of the literature revealed numerous sporadic cases (1 , 2, 3, 4, 5, 6) and a number of familial cases (7, 8, .9, 10, 11, 12). We have recently studied a family with this syndrome. The typical features were present in the proposita and her brother. The father was reported to show digital abnormalities, and the affected children were said to re— semble their father. The mother had an isolated cleft of the palate. This pedigree confirms the autosomal dominant inheritance pattern (Figure 1).