Fountain syndrome

Fountain syndrome is an autosomal recessive disorder characterized by mental retardation, deafness, skeletal abnormalities and a coarse face with full lips.

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References

• Fountain RB (1974). "Familial bone abnormalities, deaf mutism, mental retardation and skin granuloma". Proc R Soc Med 67 (9): 878-9. PMID 4431800.
• Fryns JP (1989). "Fountain's syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips". J Med Genet 26 (11): 722-4. PMID 2585470.
• Fryns JP, Dereymaeker A, Hoefnagels M, Van den Berghe H (1987). "Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome". Am J Med Genet 26 (3): 551-5. PMID 3565469.