A case of Acromicric dysplasia with FBN1 mutation

VernacularTitle:FBN1基因突变致Acromicric发育不良一例报道
Author: Xiaowen XU ¹ ; Ping LU ; Jing DUAN ; Hongli DUAN ; Zhenbo DING ; Yance HE ; Shuhan PENG
Author Information

1. 昆明医科大学第一附属医院儿科，昆明　650032
Keywords: Acromicric dysplasia; Short stature; FBN1; Child
From: Chinese Journal of Endocrinology and Metabolism 2023;39(3):265-268
CountryChina
Language:Chinese
Abstract: Acromicric dysplasia(AD) is a rare skeletal dysplasia characterized by severe short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and radiological characteristics. The clinical data and genetic test results of one patient with AD in our hospital were analyzed, and the clinical characteristics of this case were summarized. The main manifestations of the child were short stature, short hands and feet, mild facial dysmorphism, short and stubby metacarpals and phalanges on hand X-ray. One mutation, FBN1: c.5141T>G(p.Met1714Arg), was identified in this child, the mutation is inherited from her short mother and grandfather. AD is a rare congenital skeletal dysplasia disorder associated with mutations in the FBN1 gene. It conforms to the pathogenesis of autosomal dominant genetic disease.