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摘要
G症候群在臨床表現上以兩眼距過寬、尿道下裂合併喉頭、氣管解剖上或功能上的異常最為常見，本文提出兩例報告。病例一除上述症狀外還合併了唇、顎裂、心室中隔缺損，無肛症以及膀胱尿道回流等重大異常並且具有陽性家族史，病例二則出現了蹼狀頸及小腦發育不良等兩項尚未曾報告的異常。
關鍵字
無資料並列摘要
This report concerns two cases of G syndrome in male neonates with hypertelorism, hypospadias and hoarse/voiceless cry. Case 1 had a positive family history; all similarly affected relatives have apparent hypertelorism. Case 2 seemed to represent a new mutation, since the parents are apparently normal, and the family history was noncontributory. The clinical expression of Case 1 was relatively severe and needed further surgical management, such as imperforate anus, hypospadias, and vesicoureteral reflux. Case 2 had two manifestations not previously reported: hypoplasia of cerebellum and web neck.
延伸閱讀
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