Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome.
We describe 3 moderately to severely mentally retarded males (2 brothers and 1 isolated patient) with congenital deafness due to an anatomical inner ear anomaly, the same manifestations that were present in the 4 sibs reported by Fountain [1974]: skeletal abnormalities with broad, stubby hands and feet and hyperkyphosis, and a peculiar "coarse" face with swelling of the subcutaneous tissue, particularly of cheeks and lips. According to the present observations early-onset, generalized seizures can be added to the symptom complex of this autosomal recessive trait.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D003638:Deafness / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome