Coffin-Lowry syndrome and schizophrenia: a family report

Abstract

A family is reported in which the mother and 4 of her 6 children are affected by a constellation of abnormalities including mental handicap, abnormal facies, short stature, soft fleshy hands with tapering fingers and skeletal abnormalities. The family is believed to represent a further group of individuals with Coffin-Lowry syndrome. Additionally, one affected daughter has symptoms suggestive of schizophrenia and one affected son has severe sensorineural deafness.