Bowen Syndrome Of Multiple Malformations

Clinical Features

Bowen et al. (1964) described 2 families, each with 2 sibs displaying features suggesting autosomal trisomy, particularly trisomy 18; however, no chromosomal abnormality was identified. Cardinal features were failure to thrive, absent or weak sucking and swallowing, finger flexion, congenital glaucoma, malformed ears, small mandible, heart malformations, enlarged clitoris, hypospadias, agenesis of the corpus callosum, and death at an early age. No parental consanguinity was demonstrated in either family. One family was black, the other white. See Fraser syndrome (219000) for a comparable, although seemingly distinct, syndrome of malformations in sibs. It now seems clear that the first of the families reported by Bowen et al. (1964), that contributed by Zellweger, had cerebrohepatorenal syndrome (see 214100). The nature of the defect in the second family is not certain.