哈杰-切尼综合征的手部畸形：连续三代 3 例患者的病例系列。

Hand Deformities in Hajdu-Cheney Syndrome: A Case Series of 3 Patients Across 3 Consecutive Generations.

机构信息

Department of Orthopaedic Surgery and Traumatology, Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain; Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain.

Kantonspital Münsterlingen, Münsterlingen, Switzerland.

出版信息

J Hand Surg Am. 2021 Jan;46(1):73.e1-73.e5. doi: 10.1016/j.jhsa.2020.02.012. Epub 2020 Mar 30.

DOI:10.1016/j.jhsa.2020.02.012

PMID:32241674

Abstract

Hajdu-Cheney syndrome is a rare condition characterized by acro-osteolysis, osteoporosis, and multiple craniofacial anomalies. The goal of treatment is to reduce the associated symptoms and to prevent osteoporotic fractures. This is a report of 3 patients across consecutive generations demonstrating variable phenotypic severity. The hand surgeon was the first medical care provider visited by the patients because of the shortening of the fingers.

摘要

哈杰-切尼综合征是一种罕见的疾病，其特征为肢端骨质溶解、骨质疏松症和多种颅面异常。治疗目标是减轻相关症状和预防骨质疏松性骨折。本报告连续三代 3 例患者，表现出不同的表型严重程度。手部外科医生是因手指缩短而首先就诊的医疗服务提供者。