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一个患有晶状体异位、自发性滤过泡和颅面畸形综合征的家族。

A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism.

作者信息

Shawaf S, Noureddin B, Khouri A, Traboulsi E I

机构信息

Department of Ophthalmology, American University of Beirut Medical Center, Lebanon.

出版信息

Ophthalmic Genet. 1995 Dec;16(4):163-9. doi: 10.3109/13816819509057858.

Abstract

Six members of a family presented with a syndrome of mild facial dysmorphism, subluxation of the crystalline lenses, variable degrees of angle closure by iridocorneal adhesions, and patchy areas of iris atrophy. Three nonoperated eyes of two patients had spontaneous filtering blebs that presented as avascular cystic elevations of the superior conjunctiva. Systemic workup of all patients was negative for evidence of diseases known to be associated with dislocated lenses. The pedigree is most compatible with autosomal recessive inheritance with pseudodominance.

摘要

一个家族的六名成员出现了一种综合征,表现为轻度面部畸形、晶状体半脱位、虹膜角膜粘连导致不同程度的房角关闭以及虹膜萎缩的片状区域。两名患者的三只未手术眼睛出现了自发性滤过泡,表现为上结膜无血管的囊性隆起。所有患者的全身检查均未发现已知与晶状体脱位相关疾病的证据。该家系最符合具有假显性的常染色体隐性遗传。

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