Fountain syndrome
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215621833
2008-05-29T00:06:24Z
Rcej
1612789
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OMIM = 229120 |
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'''Fountain syndrome''' is an [[autosomal]] [[recessive]] [[congenital disorder]] characterized by [[mental retardation]], [[deafness]], skeletal abnormalities and a coarse face with full lips.
[[Image:autorecessive.jpg|thumb|right|{{PAGENAME}} has an autosomal recessive pattern of [[inheritance]].]]
==References==
* {{cite journal | author=Fountain RB | title=Familial bone abnormalities, deaf mutism, mental retardation and skin granuloma | journal=Proc R Soc Med | year=1974 | pages=878-879 | volume=67 | issue=9 | pmid=4431800}}
* {{cite journal | author=Fryns JP | title=Fountain's syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips | journal=J Med Genet | year=1989 | pages=722-724 | volume=26 | issue=11 | pmid=2585470}}
* {{cite journal | author=Fryns JP, Dereymaeker A, Hoefnagels M, Van den Berghe H | title=Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome | journal=Am J Med Genet | year=1987 | pages=551-555 | volume=26 | issue=3 | pmid=3565469 | doi=10.1002/ajmg.1320260307}}
==External links==
* {{OMIM|229120}}
{{Phakomatoses and other congenital malformations not elsewhere classified}}
[[Category:Genetic disorders]]
[[Category:Autosomal recessive disorders]]
[[Category:Rare diseases]]
[[Category:Syndromes]]
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