哈钦森-吉尔福德早衰综合征：一种罕见的遗传疾病。

Hutchinson-gilford progeria syndrome: a rare genetic disorder.

作者信息

Panigrahi Rajat G, Panigrahi Antarmayee, Vijayakumar Poornima, Choudhury Priyadarshini, Bhuyan Sanat K, Bhuyan Ruchi, Maragathavalli G, Pati Abhishek Ranjan

机构信息

Department of Oral Medicine & Radiology, Institute of Dental Science, Siksha O Anusandhan University, K8 Kalinga Nagar, Bhubaneswar, Odisha 751003, India.

出版信息

Case Rep Dent. 2013;2013:631378. doi: 10.1155/2013/631378. Epub 2013 Oct 30.

DOI:10.1155/2013/631378

PMID:24288630

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3830809/

Abstract

Hutchinson-Gilford progeria syndrome (HGPS) is a rare pediatric genetic syndrome with incidence of one per eight million live births. The disorder is characterised by premature aging, generally leading to death at approximately 13.4 years of age. This is a follow-up study of a 9-year-old male with clinical and radiographic features highly suggestive of HGPS and presented here with description of differential diagnosis and dental consideration. This is the first case report of HGPS which showed pectus carinatum structure of chest.

摘要

哈钦森-吉尔福德早衰综合征（HGPS）是一种罕见的儿科遗传综合征，每八百万活产儿中约有一例发病。该疾病的特征是早衰，通常导致患者在约13.4岁时死亡。这是一项对一名9岁男性的随访研究，其临床和影像学特征高度提示HGPS，本文介绍了鉴别诊断及牙科方面的考虑。这是首例显示鸡胸结构的HGPS病例报告。