Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins

机译：双胞胎Shwachman-Diamond综合征的出生时胸廓发育不全

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Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder of marrow failure syndrome and exocrine pancreatic dysfunction with an estimated incidence of 1/76,000. When present, characteristic skeletal abnormalities are strongly suggestive of SDS but most often they are seen during childhood and adolescence. We present a case of preterm twins with prenatal diagnosis of thoracic hypoplasia and a clinical evolution that lead to an early diagnosis of SDS. This report highlights the importance of a high index of suspicion for SDS in case of neonatal thoracic hypoplasia.

机译：Shwachman-Diamond综合征（SDS）是一种罕见的常染色体隐性遗传性骨髓衰竭综合征和外分泌胰腺功能障碍的疾病，估计发病率为1 / 76,000。当存在时，特征性骨骼异常强烈提示SDS，但最常见于儿童期和青春期。我们提出一例早产双胞胎，其产前诊断为胸廓发育不全，并且临床进展导致SDS的早期诊断。该报告强调了在新生儿胸廓发育不全的情况下对SDS高度怀疑的重要性。

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期刊名称 Journal of Pediatric Genetics
作者
Letizia Capasso; Angela Carla Borrelli; Julia Cerullo; Maria Rosaria Pirozzi; Francesco Raimondi;
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作者单位

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年(卷),期 2016(5),3
年度 2016
页码 158–160
总页数 3
原文格式 PDF
正文语种
中图分类遗传学;
关键词
thoracic hypoplasia newborn neutropenia exocrine pancreatic dysfunction limb shortness;

机译：胸部发育不全;新生儿;中性粒细胞减少;外分泌胰腺功能障碍;肢体短小;

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机译：大学年龄的双胞胎：大学录取政策/双胞胎研究：出生体重和神经运动表现;输血综合症标志物;双胞胎消失和胎儿性别决定; MZ威尔逊氏病/媒体双胞胎不一致症：出生时很大;计划分开的双胞胎; X Factor Twins;电影院：相同
2. Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome) [J] . Steven J Keogh, Shane McKee, Sarah F Smithson, BMC Pediatrics . 2012,第1期

机译：Shwachman-Diamond综合征：一个复杂的病例，显示出窒息性胸腔营养不良（Jeune综合征）的误诊潜力
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机译：苏格兰传教士玛丽·史莱索（Mary Slessor）百年庆典：双胞胎/双胞胎研究的持久遗产：双胞胎伴克莱因费尔特氏综合症;关于特应性疾病的双重研究;对自闭症的双重研究;双胞胎心理疗法/一般兴趣：女性双胞胎撑竿跳高运动员;最长双胞胎间隔;一对法古两国歌唱家;克罗地亚双胞胎模特
4. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome [C] . Yigal Dror, Jean Donadieu, Jutta Koglmeier, Internatonal Conference on Bipolar Disorder . 2011

机译：SHWachman-Diamond综合征的诊断和治疗协商指南草案
5. Ribosome maturation in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome. [D] . Moore, Joseph Brady, IV. 2010

机译：Diamond-Blackfan贫血和Shwachman-Diamond综合征的酵母模型中的核糖体成熟。
6. Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome) [O] . Steven J Keogh, Shane McKee, Sarah F Smithson, 2012

机译：Shwachman-Diamond综合征：一个复杂的病例显示出误诊为窒息性胸腔营养不良（Jeune综合征）的可能性
7. Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins [O] . Capasso, Letizia, Borrelli, Angela Carla, Cerullo, Julia, 2016

机译：出生时胸部发育不全作为双胞胎shwachman-Diamond综合症的特征

Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins

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