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一种以面部畸形、眼皮肤白化病、青光眼、隐睾症和智力发育迟缓为表现的新综合征。

A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation.

作者信息

Seven M, Yosunkaya E, Yilmaz S B, Karaca E, Guven G, Yuksel A

机构信息

Department of Medical Genetics, Cerrahpasa School of Medicine, Istanbul University, Istanbul, Turkey.

出版信息

Genet Couns. 2011;22(1):25-34.

PMID:21614985
Abstract

We report a case with a new syndrome that presents with glaucoma, cryptorchidism, oculocutaneous albinism, ataxia, hypotonia, autistic behaviour besides various major and minor craniofacial dysmorphic, skeletal, and neuroimaging findings, and suggest that this case represents a new syndrome not reported previously.

摘要

我们报告了一例患有新综合征的病例，该病例表现为青光眼、隐睾症、眼皮肤白化病、共济失调、肌张力减退、自闭症行为，此外还有各种主要和次要的颅面畸形、骨骼及神经影像学表现，并提示该病例代表一种此前未报道过的新综合征。

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