克里米亞一對雙胞胎中有一例罕見的VACTERL症候群臨床病例

Nowadays etiology and phenotypic peculiarities VACTERL association create a great deal of discussion in modern scientific world. It is undoubtedly true that future studies are needed to identify epigenetics and environmental causes for VACTERL syndrome. VACTERL association (OMIM 192350) is a combination of multi-system congenital malformations: vertebral anomalies (V), anal atresia (A), cardiac malformation (C), tracheo-oesophageal fistula (TE) with or without oesophageal atresia, renal dysplasia (R) and limb abnormalities (L) with frequencies 1:7000 and 1:40 000. At the present time, this phenomenon is a complex condition for diagnostic and treatment because of highly heterogeneous aetiology and manifestations. This article presents a rare clinical case in which one of the twins was diagnosed with VACTERL syndrome with defect in 2q31-q32 by a mutation in the HOXD13 gene, while the other twin was born healthy and had a normal molecular karyotype 如今 VACTERL症候群的病因和表型特徵在現代科學界引發了廣泛的討論。毫無疑問 未來需要進行更多研究來闡明VACTERL症候群的表觀遺傳學和環境致病因素。 VACTERL症候群 OMIM 192350 是一組多系統先天性畸形的組合 包括 椎體異常 V 、肛門閉鎖 A 、心臟畸形 C 、氣管食道瘺 TE 伴或不伴隨食道閉鎖 、腎發育不良 R 和肢體異常 L 其發生率分別為1/70000和肢體異常。目前 由於其病因和臨床表現的高度異質性 VACTERL症候群的診斷和治療仍是一項複雜的挑戰。本文介紹了一例罕見的臨床病例 其中一名雙胞胎被診斷患有 VACTERL 綜合徵 其 2q31-q32 區域存在 HOXD13 基因突變缺陷 而另一名雙胞胎出生時健康 且分子核型正常