1974年Fountain首次报道了4例(3男1女)智力低下、耳聋并伴四肢骨骼异常的关联症。其中2例发生了进行性口唇肿胀,其一下唇出现了浸润性内芽包块。1987年作者检查的3例中重度智力低下男性(两兄弟和另一例男性病人),均具有Fountain氏综合征。尚未见有关这类常染色体隐性遗传的智力低下-耳聋综合征。 1974 Fountain for the first time reported in 4 cases (3 men and 1 woman) mental retardation, deafness and limbs associated with skeletal abnormalities. In 2 of them, progressive lip swelling occurred, and the underlying lip appeared infiltrative internal bud mass. Three of the moderately and severely mentally disabled men (two brothers and another male patient) examined by the author in 1987 all had Fountain’s syndrome. There are no mental retardation-deafness syndromes associated with this type of autosomal recessive inheritance.