[Clinical features and FGFR3 mutations of children with achondroplasia].

ABSTRACT:

Objectives

To study the clinical features and fibroblast growth factor receptor 3 (FGFR3) gene mutations of children with achondroplasia (ACH) through an analysis of 17 cases.

Methods

A retrospective analysis was performed on the clinical data and FGFR3 gene detection results of 17 children with ACH who were diagnosed from January 2009 to October 2021.

Results

Of the 17 children with ACH, common clinical manifestations included disproportionate short stature (100%, 17/17), macrocephaly (100%, 17/17), trident hand (82%, 14/17), and genu varum (88%, 15/17). The common imaging findings were rhizomelic shortening of the long bones (100%, 17/17) and narrowing of the lumbar intervertebral space (88%, 15/17). Major complications included skeletal dysplasia (100

SUBMITTER: Zhang HQ 

PROVIDER: S-EPMC9044984 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature