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哈达德综合征:病例研究。

Haddad syndrome: a case study.

作者信息

Shuman Lisa, Youmans Diane

机构信息

St Joseph's Candler Medical Group, Pembroke, Georgia, USA.

出版信息

Neonatal Netw. 2005 Jul-Aug;24(4):41-4. doi: 10.1891/0730-0832.24.4.41.

DOI:10.1891/0730-0832.24.4.41
PMID:16117243
Abstract

Hirschsprung's disease (HD), also known as congenital aganglionic megacolon, is a relatively common cause of congenital obstruction of the colon. Congenital central hypoventilation syndrome (CCHS), also known as Ondine's curse, is a rare condition involving failed autonomic respiration in the absence of cardiorespiratory disease resulting in inadequate alveolar ventilation. Both conditions typically present in the newborn period and belong to a group of disorders referred to as neurocristopathies. HD and CCHS most commonly exist as discrete entities, but the coexistence of them is now called Haddad syndrome. Although few documented cases of Haddad syndrome exist in the literature, the association of CCHS and HD suggests a common etiology involving neural crest development.

摘要

先天性巨结肠(HD),也称为先天性无神经节性巨结肠,是导致结肠先天性梗阻的相对常见原因。先天性中枢性低通气综合征(CCHS),也称为翁丁氏 curse,是一种罕见病症,在无心肺疾病的情况下自主呼吸功能衰竭,导致肺泡通气不足。这两种病症通常在新生儿期出现,属于一组被称为神经嵴病的疾病。HD和CCHS最常作为独立病症存在,但它们的共存现在被称为哈达德综合征。尽管文献中记录的哈达德综合征病例很少,但CCHS和HD的关联表明存在涉及神经嵴发育的共同病因。

相似文献

1
Haddad syndrome: a case study.哈达德综合征:病例研究。
Neonatal Netw. 2005 Jul-Aug;24(4):41-4. doi: 10.1891/0730-0832.24.4.41.
2
Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease.新生儿哈达德综合征病例报告:先天性中枢性低通气综合征合并先天性巨结肠症。
J Perinatol. 2006 Apr;26(4):259-60. doi: 10.1038/sj.jp.7211480.
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[Home artificial respiration in a girl with Ondine-Hirschsprung syndrome (Haddad's syndrome)].
Lijec Vjesn. 2001 Jul-Aug;123(7-8):174-6.
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Ondine's curse and Hirschsprung's disease: neurocristopathic syndrome.
Eur J Pediatr Surg. 1999 Dec;9(6):430-2. doi: 10.1055/s-2008-1072300.
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Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.先天性通气不足综合征与先天性巨结肠——哈达德综合征:1例新生儿病例报告
J Neonatal Perinatal Med. 2015;8(2):165-8. doi: 10.3233/NPM-15814058.
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Haddad syndrome presenting with abdominal distension associated with long-segment aganglionosis.伴有长节段无神经节细胞症的腹胀表现的 Haddad 综合征。
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Congenital central hypoventilation syndrome (CCHS) with Hirschsprung disease (Haddad syndrome): an unusual cause of reduced baseline variability of the fetal heart rate.先天性中枢性低通气综合征(CCHS)合并先天性巨结肠(哈达德综合征):胎儿心率基线变异性降低的罕见原因。
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Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant.一名土耳其婴儿因PHOX2B基因突变导致先天性中枢性低通气综合征合并先天性巨结肠。
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Hirschsprung's disease associated with Ondine's curse.先天性巨结肠合并原发性肺泡低通气综合征
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Congenital central hypoventilation syndrome in a full-term baby presenting with repeated extubation failure.先天性中枢性低通气综合征患儿足月分娩,因反复拔管失败而就诊。
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