Clinical features and FGFR3 mutations of children with achondroplasia / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 405-410, 2022.
Article
ي Zh
| WPRIM
| ID: wpr-928622
المكتبة المسؤولة:
WPRO
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%, 17/17), middle ear dysfunction (82%, 14/17), motor/language developmental delay (88%, 15/17), chronic pain (59%, 10/17), sleep apnea (53%, 9/17), obesity (41%, 7/17), foramen magnum stenosis (35%, 6/17), and hydrocephalus (24%, 4/17). All 17 children (100%) had FGFR3 mutations, among whom 13 had c.1138G>A hotspot mutations of the FGFR3 gene, 2 had c.1138G>C mutations of the FGFR3 gene, and 2 had unreported mutations, with c.1252C>T mutations of the FGFR3 gene in one child and c.445+2_445+5delTAGG mutations of the FGFR3 gene in the other child.@*CONCLUSIONS@#This study identifies the unreported mutation sites of the FGFR3 gene, which extends the gene mutation spectrum of ACH. ACH is a progressive disease requiring lifelong management through multidisciplinary collaboration.
Key words
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Osteochondrodysplasias
/
Achondroplasia
/
Retrospective Studies
/
Receptor, Fibroblast Growth Factor, Type 3
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Mutation
نوع الدراسة:
Observational_studies
/
Prognostic_studies
المحددات:
Child
/
Humans
اللغة:
Zh
مجلة:
Chinese Journal of Contemporary Pediatrics
السنة:
2022
نوع:
Article