Non-progressive mental retardation and peripheral neuropathy in a mother and her son.
The association of facial dysmorphism, moderate mental retardation and peripheral neuropathy was observed in a mother and her son. The son also has pyramidal tract involvement in the lower limbs. Although exactly the same association has not been described previously, it seems probable that it results from variable expression of a dominant gene defect.
Longman
C
C
Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow, UK.
Tolmie
J
J
McWilliam
R
R
D000293:Adolescent; D000328:Adult; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities; D005192:Family Health; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009128:Muscle Spasticity / Q000175:diagnosis / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics