Nishi Y, Hamamoto K, Kajiyama M, Kawamura I
Department of Pediatrics, Hiroshima Red Cross Hospital, Japan.
Am J Med Genet. 1988 Nov;31(3):623-9. doi: 10.1002/ajmg.1320310317.
We report on two Japanese sisters with Perrault syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensorineural deafness. They also had ataxic gait, pes equinovarus, nystagmus, limited extraocular movements, and short stature. One older affected sister had partial growth hormone deficiency. Our review included 21 patients from 8 families, including our patients; 16 are women with ovarian dysgenesis and deafness, 3 deaf males without gonadal defect, one a woman with ovarian dysgenesis without deafness, and one a girl with deafness in whom ovarian function was not evaluated. Perrault syndrome may not be uncommon; some cases may have gone unrecognized, especially when a single child in a family is affected.
我们报告了两名患有佩罗特综合征的日本姐妹，即常染色体隐性遗传性卵巢发育不全伴感音神经性耳聋。她们还伴有共济失调步态、马蹄内翻足、眼球震颤、眼球运动受限和身材矮小。一名年长的患病姐妹存在部分生长激素缺乏。我们的综述纳入了包括我们的患者在内的来自8个家庭的21例患者；其中16例为患有卵巢发育不全和耳聋的女性，3例为无性腺缺陷的耳聋男性，1例为患有卵巢发育不全但无耳聋的女性，1例为未评估卵巢功能的耳聋女孩。佩罗特综合征可能并不罕见；有些病例可能未被识别，尤其是当一个家庭中只有一个孩子患病时。
