Trichorhinophalangeal Syndrome Type I: A Novel Mutation and Perthes-like Changes of the Hip in a Family With 4 Cases Over 3 Generations

被引：9

作者：

Hufeland, Martin ^{[1
]}

Rahner, Nils ^{[2
]}

Krauspe, Ruediger ^{[1
]}

机构：

[1] Univ Klinikum Dusseldorf, Dept Orthoped Surg, D-40225 Dusseldorf, Germany

[2] Univ Klinikum Dusseldorf, Inst Human Genet, D-40225 Dusseldorf, Germany

来源：

JOURNAL OF PEDIATRIC ORTHOPAEDICS | 2015年 / 35卷 / 01期

关键词：

Legg-Calve-Perthes disease; hip; avascular necrosis; TRPS; trichorhinophalangeal syndrome; LANGER-GIEDION-SYNDROME; SYNDROME TYPE-III; RHINO-PHALANGEAL SYNDROME; SYNDROME REGION; DISEASE; GENE; DYSPLASIA; EVOLUTION; EXOSTOSES; PATHOLOGY;

D O I：

10.1097/BPO.0000000000000330

中图分类号：

R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];

学科分类号：

摘要：

The trichorhinophalangeal syndrome is a rare genetic syndrome with characteristic craniofacial and skeletal abnormalities including hip pathology in variable manifestation. We describe hip involvement with Perthes-like changes and a novel mutation of the TRPSI gene in a family with 4 affected individuals. This case series underlines the clinical significance of rare genetic disorders such as TRPS that among other differential diagnoses should be kept in mind when children present with Perthes-like changes of the hip joint.

引用

页码：E1 / E5

页数：5

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