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极低出生体重双胞胎中的一个患有21三体综合征。

Trisomy 21 in one of extremely low birth weight twins.

作者信息

Solomon Benjamin D, Balachandar Divya, Perry Karen, Carrillo-Carrasco Nuria, Markello Thomas C, Rais-Bahrami Khodayar

机构信息

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

出版信息

J Neonatal Perinatal Med. 2008 Jan 1;1(3):193-196.

Abstract

Prematurity is frequently seen in the neonatal intensive care unit, and trisomy 21 is an often diagnosed neonatal disorder. We report a unique case of extremely premature twins, one of whom was ultimately diagnosed with trisomy 21. We were able to examine the neonatal courses and outcomes of these twins, which were similar despite the presence of trisomy 21 in one twin. This is the first report comparing the neonatal course of an infant with trisomy 21 to an unaffected twin in patients born so prematurely, and demonstrates the difficulty of making the diagnosis of trisomy 21 based solely on physical examination in premature infants.

摘要

早产在新生儿重症监护病房很常见,21三体综合征是一种常被诊断出的新生儿疾病。我们报告了一例极为早产的双胞胎的独特病例,其中之一最终被诊断为21三体综合征。我们得以研究这对双胞胎的新生儿病程及结局,尽管其中一个双胞胎患有21三体综合征,但二者的病程及结局相似。这是首篇比较如此早产出生的患有21三体综合征的婴儿与未受影响的双胞胎的新生儿病程的报告,且证明了仅根据早产儿的体格检查来诊断21三体综合征存在困难。

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