Aggrecan type spondylometaphyseal dysplasia：one rare case report

VernacularTitle:蛋白聚糖型脊柱骨骺干骺端发育不良1例报告
Author: Xi YANG ; Yujie LIU ; Huijuan MA
Publication Type:Journal Article
Keywords: aggrecan type spondylometaphyseal dysplasia; short stature; genetic mutation
From: Journal of Clinical Pediatrics 2016;34(8):589-591
CountryChina
Language:Chinese
Abstract: Objectives To analyze a rare autosomal recessive disease, aggrecan type spondylometaphyseal dysplasia (SEMD), which was caused by ACAN gene mutations. Methods A 7 years old girl was diagnosed with short stature after excluding growth hormone deficiency, idiopathic short stature, and hypothyroidism. Combining family history and clinical features, SEMD were suspected and genetic tests were performed. Results The patient was found with homozygous mutations of c.512C > T inACAN gene, and was diagnosed with aggrecan type SEMD. Her parents were found to be heterozygous mutation carrier. Conclusions In patients with high suspection of a special type of short stature, early genetic tests should be carried out for a clear diagnosis.