Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: Confirmation of the Fountain syndrome

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Abstract
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 hyperky‐phosis, 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.

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