A Child with Geleophysic Dysplasia Type 2 Caused by a Novel Mutation of FBN1: A Case Report and Literature Review

Abstract

目的：报告1例FBN1基因新生突变所致的Geleophysic发育不良2型(GD2)，探讨GD临床诊治特点，为GD患儿的早期发现、早期诊断提供依据。方法：总结患儿临床特征表型、实验室检查、基因测序结果，并对FBN1基因突变导致的GD病例进行文献复习。结果：本例患儿男，10岁11月，因“身材矮小”初诊，主要表现为身材矮小、特殊面容、心脏瓣膜病、手指关节僵硬和骨骼发育不良。遗传病综合基因测序发现FBN1新生基因突变，核苷酸改变为c.5284G>A，氨基酸改变为p.Gly1762Ser。检索Pubmed数据库、万方数据库、中国知网、OMIM数据库，检索时间从建库至2017年12月，共检索到23篇文献，其中筛选出6篇英文文献共有32例由FBN1基因导致的GD病例报道，与本文1例合并后共33例。对该病的病因、临床表型、诊断和治疗随访进行了文献综述。结论：GD在临床罕见，极易误诊和漏诊，身材矮小合并短手短脚、心脏瓣膜病及关节僵硬时，应高度警惕GD的可能性。诊断GD后对患儿需长期多学科监测随访。 Objective: To report a geleophysic dysplasia type 2 (GD2) caused by FBN1 gene mutation, provide the clinical features of early diagnosis in patients with GD. Method Analysis was performed on clinical manifestation, imageological examination and parental Sanger test of a patient carrying novel mutation of FBN1, and literatures about clinical features of GD. Results: A 10-year-and-11-month-old boy referred to the growth and development clinic for short stature. Major clinical manifestations are short stature, special face, heart valvular disease, digits joint stiffness and skeletal dysplasia. A pair of novel heterozygous mutation of FBN1 was found by gene sequencing. Nucleotide change is c.5284G>A and amino acid change is p.G1762S (Gly to Ser). Databases were searched including Pubmed Database, Wan Fang Database, CNKI Database, OMIM Database from database-building time to December 1, 2017 by the use of key words “geleophysic dysplasia” and “FBN1”. A total of 23 articles were retrieved and 6 English articles (32 cases) were screened out, including three familial cases. Conclusion: Geleophysic dysplasia (GD) is a rare skeletal disorder, which is liable to cause delayed diagnose and misdiagnosis. Careful examination is recommended for patients with heterogeneity short stature, short hand and feet, special face, heart valvular disease and joint stiffness. We should provide multidisciplinary monitoring to GD patients, like ultrasonic cardiogram, abdominal ultrasound, pulmonary function and so on.