New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia

Abstract

We report three sibs, one boy and two girls, with a similar MCA/MR syndrome, where parents were first cousins. They had macrodolichocephaly, an elongated face, apparently low-set simple ears, hypertelorism, bilateral "key-hole' colobomata of the iris, retina and choroid, a beaked nose, micrognathia and dental anomalies. Brain CT scan showed dilated ventricles and an absent corpus callosum. Skeletal anomalies included brachydactyly of the hands and feet, genua vara and flat feet. Two sibs had left ventricular enlargement, and aortic dilatation and regurgitation. Review of the literature from the London Dysmorphology Data Base (LDDB) and OMIM suggests that this family represents a new syndrome.