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.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002972:Cleft Palate / Q000175:diagnosis; D003394:Craniofacial Dysostosis / Q000175:diagnosis; D003398:Craniosynostoses / Q000175:diagnosis; D003878:Dermatoglyphics; D003937:Diagnosis, Differential; D003965:Diaphragmatic Eventration / Q000175:diagnosis; D005260:Female; D005901:Glaucoma / Q000175:diagnosis; D006130:Growth Disorders / Q000175:diagnosis; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D008607:Intellectual Disability; D013577:Syndrome; D013997:Time Factors