Syndrome of mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, growth failure and craniosynostosis.

A patient is reported with a syndrome of mental retardation, congenital microcephaly, cleft palate, congenital heart defect, eventration of the diaphragm, optic atrophy, and glaucoma. Her facies was Crouzon-like and craniosynostosis, although not present at 10 months, was demonstrated postmortem at 29 months. It is suggested that she is an example of a true multiple congenital anomaly-mental retardation syndrome rather than an example of Crouzon syndrome with additional anomalies.