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Haddad syndrome--congenital central hypoventilation associated with Hirschsprung's disease.

作者信息

D'Souza Susan, Khubchandani R P

机构信息

Jaslok Hospital and Research Center, Peddar Road, Mumbai, India.

出版信息

Indian J Pediatr. 2003 Jul;70(7):597-9. doi: 10.1007/BF02723168.

DOI:10.1007/BF02723168
PMID:12940386
Abstract

The combination of Congenital Central Hypoventilation with Hirschsprung's disease belongs to the family of diseases now designated as Neurocristopathies. The authors report a polysomnographically documented case and review literature on this disorder.

摘要

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引用本文的文献

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Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?先天性中枢性低通气综合征伴 PHOX2B 基因突变：我们是否漏诊了？
Indian J Pediatr. 2013 Aug;80(8):688-90. doi: 10.1007/s12098-012-0837-2. Epub 2012 Jul 25.
2
Novel neuropathologic findings in the Haddad syndrome.Haddad 综合征的新型神经病理学发现。
Acta Neuropathol. 2010 Feb;119(2):261-9. doi: 10.1007/s00401-009-0599-8. Epub 2009 Oct 21.

本文引用的文献

1
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
Indian J Pediatr. 2002 Nov;69(11):987-8. doi: 10.1007/BF02726021.
2
Ondine's curse associated with Hirschsprung disease and ganglioneuroblastoma.
J Pediatr Gastroenterol Nutr. 2002 Jan;34(1):83-6. doi: 10.1097/00005176-200201000-00020.
3
Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies.先天性中枢性低通气综合征合并先天性巨结肠和神经母细胞瘤：多系统神经嵴病病例
Pediatr Pulmonol. 2002 Jan;33(1):71-6. doi: 10.1002/ppul.10031.
4
Congenital central hypoventilation syndrome associated with Hirschsprung's disease: mutation analysis of the RET and endothelin-signaling pathways.先天性中枢性低通气综合征合并先天性巨结肠：RET和内皮素信号通路的突变分析
Eur J Pediatr Surg. 2001 Oct;11(5):335-7. doi: 10.1055/s-2001-18552.
5
Clinical letter: epidural analgesia in a newborn with Hirschsprung's disease, associated with congenital central hypoventilation syndrome.临床信函：先天性巨结肠症新生儿的硬膜外镇痛，与先天性中枢性低通气综合征相关
Eur J Anaesthesiol. 2000 Dec;17(12):751-3. doi: 10.1046/j.0265-0215.2000.00771.x.
6
Tonic pupil associated with congenital neuroblastoma, Hirschsprung disease, and central hypoventilation syndrome.伴有先天性神经母细胞瘤、先天性巨结肠和中枢性低通气综合征的强直性瞳孔。
Am J Ophthalmol. 2000 Aug;130(2):238-40. doi: 10.1016/s0002-9394(00)00480-3.
7
Neonatal Hirschsprung disease, dysautonomia, and central hypoventilation.新生儿先天性巨结肠、自主神经功能障碍和中枢性通气不足。
Obstet Gynecol. 1999 May;93(5 Pt 2):834-6. doi: 10.1016/s0029-7844(98)00474-8.
8
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.
9
Autonomic dysfunction in children with Hirschsprung's disease.先天性巨结肠症患儿的自主神经功能障碍
Dig Dis Sci. 1999 May;44(5):960-5. doi: 10.1023/a:1026608630301.
10
Congenital central hypoventilation syndrome: an update.先天性中枢性低通气综合征：最新进展
Pediatr Pulmonol. 1998 Oct;26(4):273-82. doi: 10.1002/(sici)1099-0496(199810)26:4<273::aid-ppul7>3.0.co;2-c.