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一名新生儿骶骨发育不全的罕见表现。

An unusual presentation of sacral agenesis in a newborn baby.

作者信息

Oei J, Koh T H

机构信息

Department of Neonatology, Canberra Hospital, Australia.

出版信息

Int J Clin Pract. 1998 Mar;52(2):125-6.

PMID:9624796
Abstract

A potentially difficult situation can arise when a sick newborn baby presents with a common clinical sign that subsequently turns out to be a manifestation of a rare condition. The baby's birth sometimes results in the diagnosis of a new condition in other members of the family. Necrotising enterocolitis is the commonest surgical condition among babies in the neonatal intensive care unit (NICU). We report a case where abdominal distension in an acutely ill baby at high risk of necrotising enterocolitis masqueraded as an unusual presentation of familial sacral agenesis.

摘要

当患病新生儿出现一种常见临床体征,而该体征后来被证明是一种罕见疾病的表现时,可能会出现棘手的情况。婴儿出生有时会导致其家族其他成员被诊断出一种新疾病。坏死性小肠结肠炎是新生儿重症监护病房(NICU)中婴儿最常见的需手术治疗的疾病。我们报告一例病例,一名患有坏死性小肠结肠炎高风险的急病婴儿出现腹胀,结果被误诊为家族性骶骨发育不全的罕见表现。

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