Fountain syndrome

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

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.CS1 maint: Multiple names: authors list (link)

External links

• Online Mendelian Inheritance in Man (OMIM) 229120