Coffin-Lowry syndrome and schizophrenia: a family report.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012559:Schizophrenia / Q000235:genetics*; D013577:Syndrome