Fryns J P, Dereymaeker A, Hoefnagels M, Van den Berghe H
Am J Med Genet. 1987 Mar;26(3):551-5. doi: 10.1002/ajmg.1320260307.
We describe 3 moderately to severely mentally retarded males (2 brothers and 1 isolated patient) with congenital deafness due to an anatomical inner ear anomaly, the same manifestations that were present in the 4 sibs reported by Fountain [1974]: skeletal abnormalities with broad, stubby hands and feet and hyperkyphosis, and a peculiar "coarse" face with swelling of the subcutaneous tissue, particularly of cheeks and lips. According to the present observations early-onset, generalized seizures can be added to the symptom complex of this autosomal recessive trait.
我们描述了3名患有先天性耳聋的中度至重度智力发育迟缓男性（2名兄弟和1名单发患者），其先天性耳聋是由内耳解剖结构异常所致，这些表现与Fountain[1974]报道的4名同胞相同：骨骼异常，手足宽阔、短粗，脊柱后凸过度，以及面部呈现一种特殊的“粗糙”外观，皮下组织肿胀，尤其是脸颊和嘴唇。根据目前的观察结果，早发性全身性癫痫发作可补充到这种常染色体隐性性状的症状复合体中。
