一名发育迟缓男孩患有隐睾症、小阴茎和临床无眼癫痫。
Cryptorchidism, micropenis and clinical anophthalmia epilepsy in a retarded boy.
作者信息
Izumiya K, Nakada T
机构信息
Department of Urology, Yamagata University School of Medicine, Japan.
出版信息
Int Urol Nephrol. 1996;28(1):103-8. doi: 10.1007/BF02550146.
PMID:8738628
Abstract
A boy was found to have bilateral anophthalmia at birth. General health examination revealed cryptorchidism and micropenis. Physical and mental retardation in addition to epilepsy were observed. Karyotype showed 47, XY. No report has ever described such a case of dysmorphic syndrome.
摘要
一名男婴出生时被发现双眼无眼球。全身健康检查发现隐睾症和小阴茎。观察到除癫痫外还有身体和智力发育迟缓。染色体核型显示为47，XY。此前尚无关于这种畸形综合征病例的报道。
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