一个患有假性软骨发育不全性脊椎骨骺发育不良的家族中的中心性晕轮状脉络膜营养不良。

Central areolar choroidal dystrophy in a family with pseudoachondroplastic spondyloepiphyseal dysplasia.

作者信息

Mansour A M

机构信息

Department of Ophthalmology, University of Texas Medical Branch, Galveston 77550.

出版信息

Ophthalmic Paediatr Genet. 1988 Mar;9(1):57-65. doi: 10.3109/13816818809031481.

DOI:10.3109/13816818809031481

PMID:3405594

Abstract

The author reports the first association of central areolar choroidal dystrophy in three brothers with pseudoachondroplastic spondyloepiphyseal dysplasia. Both central areolar choroidal dystrophy and pseudoachondroplastic spondyloepiphyseal dysplasia represent heterogeneous disorders with autosomal dominant transmission. It is hypothesized that this association is a result of a new subtype involving both the skeletal system and the eye.

摘要

作者报告了三兄弟中中央性晕轮状脉络膜营养不良与假性软骨发育不全性脊椎骨骺发育不良的首次关联。中央性晕轮状脉络膜营养不良和假性软骨发育不全性脊椎骨骺发育不良均为具有常染色体显性遗传的异质性疾病。据推测，这种关联是一种涉及骨骼系统和眼睛的新亚型的结果。