Microcephaly-Deafness Syndrome

Clinical Features

Kawashima and Tsuji (1987) reported the cases of a mother and son with microcephaly, mental retardation, and characteristic facies. The subjects were also deaf and had low-set, cup-shaped ears. The facial characteristics were asymmetry, prominent glabella, protruding lower lip, and micrognathia. Childhood photographs demonstrated microcephaly in the mother who became normocephalic by age 26 years.

Inheritance

Kawashima and Tsuji (1987) suggested autosomal dominant inheritance of this disorder.