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坐骨-耻骨-髌骨发育不全:它是一种新综合征吗?

Ischio-pubic-patellar hypoplasia: is it a new syndrome?

作者信息

Habboub H K, Thneibat W A

机构信息

Department of Radiology - 3953 JPP, University of Iowa College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA.

出版信息

Pediatr Radiol. 1997 May;27(5):430-1. doi: 10.1007/s002470050162.

Abstract

Aplasia/hypoplasia of the patella has been described as an isolated finding or, more commonly, as a part of congenital syndromes. We describe here bilateral absence of the patella in an 11-year-old girl with absence of the ischial and inferior pubic rami bilaterally. Other associated skeletal and soft-tissue deformities are also reported. To our knowledge, the constellation of these findings has not been described previously and represents a unique syndrome.

摘要

髌骨发育不全/发育不良已被描述为一种孤立的表现,或更常见的是,作为先天性综合征的一部分。我们在此描述一名11岁女孩双侧髌骨缺如,同时双侧坐骨和耻骨下支缺如。还报告了其他相关的骨骼和软组织畸形。据我们所知,这些表现的组合此前尚未见报道,代表了一种独特的综合征。

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