Brosnan P G, Lewandowski R C, Toguri A G, Payer A F, Meyer W J
J Pediatr. 1980 Oct;97(4):586-90. doi: 10.1016/s0022-3476(80)80013-8.
Two 46,XY phenotypic female siblings, aged 1 1/2 and 8 1/2 years, have peculiar facies, cardiac, renal, musculoskeletal, and ectodermal anomalies, short stature, streak gonads, and mild developmental delay. Previous reported cases of 46,XY gonadal dysgenesis have not had major associated malformations. These children present a new constellation of anomalies unlike those seen in other types of gonadal dysgenesis and represent a new familial syndrome of 46,XY gonadal dysgenesis.
两名46,XY核型的表型女性同胞，年龄分别为1岁半和8岁半，具有特殊面容、心脏、肾脏、肌肉骨骼和外胚层异常、身材矮小、条索状性腺以及轻度发育迟缓。先前报道的46,XY性腺发育不全病例未伴有主要相关畸形。这些患儿呈现出一组与其他类型性腺发育不全不同的异常表现，代表了一种新的46,XY性腺发育不全家族综合征。
