Craniosynostosis-Mental Retardation-Clefting Syndrome

Baraitser et al. (1982) described a 5-year-old girl with craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose. The same disorder was detected in a later pregnancy by fetoscopy, which demonstrated cleft lip. The electively aborted male fetus showed also palatal cleft, choroidal coloboma, and small posterior fontanel.