Importance of Recognising Dysmorphic Features: Trichorhinophalangeal Syndrome

被引：0

作者：

Baba, Ozge ^{[1
]}

Kisaoglu, Hakan ^{[1
]}

Kalyoncu, Mukaddes ^{[1
]}

机构：

[1] Karadeniz Tech Univ, Fac Med, Dept Pediat Rheumatol, Trabzon, Turkiye

来源：

JOURNAL OF CHILD - COCUK DERGISI | 2023年 / 23卷 / 02期

关键词：

Brachydactyly; Cone-Shaped Epiphysis; Hypermobility; Legg-Calve-Perthes; Mitral Valve Prolapse; Trichorhinophalangeal Syndrome; BONE;

D O I：

10.26650/jchild.2023.1251787

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Trichorhinophalangeal syndrome is a rare disease caused by variations in the TRPS1 gene. The disease is characterized by slowly growing hair/nail and skeletal malformations, including brachydactyly and cone-shaped epiphysis. Hip problems are frequently observed, and musculoskeletal pain associated with hypermobility may also occur. Recognition of dysmorphic features associated with this rare disease may lead to prompt diagnosis and improved care of these patients. Herein, we present a paediatric case with longstanding complaints diagnosed with the trichorhinophalangeal syndrome.

引用

页码：199 / 202

页数：4

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