Holt-Oram症候群一病例報告與文獻回顧

Holt-Oram syndrome（HOS）是一以上肢骨骼畸型合併先天性心臟病為診斷條件並具家族性正染色體顯性遺傳方式遺傳且在臨床上較為罕見的症候群。本篇報告一無家族史女性以散發性染色體突變方式表現表現的病例，上肢主要以右側拇指、大魚際肌、舟狀骨、與橈骨發育不全為主要臨床表徵，經心導管診斷為靜脈竇型心房中隔缺損由左至右分流。在13歲時因暈厥與胸痛發作頻繁而入院求診，經手術修補心房中隔缺損並置放人工節律器後康復出院。本文除回顧文獻作一比較外並研討其遺傳方式，俾藉遺傳諮詢訊息以非侵襲性產前胎兒超音波檢查作早期的診斷。

關鍵字

Holt-Oram症候群；上肢畸型；先天性心臟病

並列摘要

The Holt-Oram syndrome (HOS) is known as the autosomal dominant trait afflicting several generations in succession of upper extremity skeletal defects and congenital heart disease. In this article we report a sporadic case of this syndrome in a 13-year-old girl. She had a sinus venousus atrial septal defect, pectus carinatum, hypoplastic fingerlike thumbs and radius. Cardiac catheterization and radiographic studies confirmed the clinical diagnosis. Atrial defect was successfully closed with a patch and pacemaker implantation in surgical treatment. This case signifies sporadic mutation because of normal parents, had offspring with HOS. We present this case compared with the series reported in the literature and discuss the genetics in order to aid precise diagnosis. In addition to cure the underlying attendant anomalies, we should offer appropriate genetic counseling of both patient and parents for the posibility of the inheritance. Antenatal fetal sonogram is the best tool to detect the anomalies.

並列關鍵字

Holt-Oram syndrome ； atrial septal defect ； upper limb skeletal defect

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Holt-Oram症候群一病例報告與文獻回顧

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