Fountain syndrome 3730400 215621833 2008-05-29T00:06:24Z Rcej 1612789 /* References */ typo {{Infobox_Disease | Name = {{PAGENAME}} | Image = | Caption = | DiseasesDB = | ICD10 = | ICD9 = | ICDO = | OMIM = 229120 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | }} '''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]] {{genetic-disorder-stub}}