中国实用儿科杂志

中国实用儿科杂志 ›› 2024, Vol. 39 ›› Issue (11): 877-880.DOI: 10.19538/j.ek2024110615

• 病例报告 • 上一篇    

儿童毛发-鼻-指（趾）综合征Ⅰ型3例

  

  1. 1.苏州大学附属儿童医院  a 内分泌遗传代谢科，b 苏州市儿童罕见病临床医学中心，c 儿科临床研究院，江苏  苏州  215003；2.浙江省台州市立医院儿内科，浙江  台州  318000；3.徐州医科大学附属徐州儿童医院内分泌科，江苏  徐州  221000；4.苏州市吴江区儿童医院儿科研究室，江苏  苏州  215200；5.昆山市第六人民医院儿科，江苏  昆山  215300
  • 出版日期:2024-11-06 发布日期:2024-12-24
  • 通讯作者: 陈婷，电子信箱：chenting888@suda.edu.cn
  • 基金资助:
    江苏省卫生健康委员会面上项目（M2021082）；苏州市卫生健康委员会姑苏卫生人才计划（GSWS2020046）；苏州市科技局重点临床技术研究（SKY2023007）；苏州大学临床高峰项目（ML13100523）

Three cases of tricho-rhino-phalangeal syndrome type I in children

  1. *Department of Endocrinology，Metabolism and Genetic Disorders，Children’s Hospital of Soochow University，Suzhou  215003，China
  • Online:2024-11-06 Published:2024-12-24

摘要： 收集2021年9月至2023年2月在苏州大学附属儿童医院内分泌遗传代谢科确诊的3例儿童毛发-鼻-指（趾）综合征（TRPS）Ⅰ型患儿临床资料，分析临床及遗传学特点。3例患儿均存在矮身材、头发稀疏、特殊面容及骨骼畸形。病例2和病例3患儿均同时存在生长激素缺乏，病例3患儿出现青春发育时间提前。全外显子基因测序显示3例患儿均存在TRPS1基因变异，对于合并头发稀疏、特殊面容及骨骼畸形的矮身材儿童，需警惕TRPS，及时完善基因检测明确诊断，有利于患儿长期预后管理。

关键词: 毛发-鼻-指（趾）综合征Ⅰ型, TRPS1基因, 临床特征, 管理

Abstract: Clinical data of 3 children were collected， who were diagnosed with tricho-rhino-phalangeal syndrome（TRPS） type I at the Department of Endocrinology，Genetics，and Metabolism of Children's Hospital of Soochow University from September 2021 to February 2023，and the clinical and genetic characteristics were analyzed. All three patients exhibited short stature，sparse hair，special facial features and skeletal abnormalities. Patients 2 and 3 both had growth hormone deficiency. For short stature children with sparse hair，special facial features and skeletal malformations，it is necessary to be alert to TRPS and to complete genetic testing in time in clinical practice，  in order to achieve early diagnosis and to benefit long-term management of prognosis.

Key words:  , tricho-rhino-phalangeal syndrome type I, TRPS1 gene, clinical characteristics, management