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

Am J Med Genet. 1987 Mar;26(3):551-5. doi: 10.1002/ajmg.1320260307.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Bone and Bones / abnormalities*
  • Chromosome Aberrations / diagnosis*
  • Chromosome Disorders
  • Deafness / genetics*
  • Face / abnormalities*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Syndrome