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同父异母（或同母异父）兄弟姐妹中的先天性中枢性低通气综合征和先天性巨结肠病

Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs.

作者信息

Hamilton J, Bodurtha J N

机构信息

Department of Human Genetics, Medical College of Virginia, Richmond.

出版信息

J Med Genet. 1989 Apr;26(4):272-4. doi: 10.1136/jmg.26.4.272.

DOI:10.1136/jmg.26.4.272
PMID:2654399
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017302/
Abstract

We report two infants with congenital central hypoventilation syndrome and Hirschsprung's disease who have the same father but different mothers. The genetic implications of these cases are discussed.

摘要

我们报告了两名患有先天性中枢性低通气综合征和先天性巨结肠症的婴儿，他们有同一个父亲，但母亲不同。文中讨论了这些病例的遗传学意义。

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本文引用的文献

1
Ondine's curse and neurocristopathy.
Clin Pediatr (Phila). 1980 Oct;19(10):665-8. doi: 10.1177/000992288001901004.
2
Total aganglionosis of the colon (Hirschsprung's disease) and congenital failure of automatic control of ventilation (Ondine's curse).
Acta Paediatr Scand. 1981 Jan;70(1):121-4. doi: 10.1111/j.1651-2227.1981.tb07184.x.
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Congenital central alveolar hypoventilation syndrome in six infants.六例婴儿先天性中枢性肺泡低通气综合征
Pediatrics. 1982 Nov;70(5):684-94.
4
Failure of automatic control of ventilation (Ondine's curse). Report of an infant born with this syndrome and review of the literature.通气自动控制功能衰竭（翁迪内氏诅咒）。一例患有该综合征的新生儿病例报告及文献综述。
Medicine (Baltimore). 1970 Nov;49(6):487-504.
5
Fibromuscular dysplasia of arteries in Hirschsprung's disease.先天性巨结肠症中动脉的纤维肌性发育异常。
Gastroenterology. 1985 May;88(5 Pt 1):1099-103. doi: 10.1016/s0016-5085(85)80066-4.
6
Diaphragmatic pacing in infants: techniques and results.婴儿膈神经起搏：技术与结果
Ann Thorac Surg. 1985 Oct;40(4):323-9. doi: 10.1016/s0003-4975(10)60061-6.
7
Inability of neural crest cells to colonize the presumptive aganglionic bowel of ls/ls mutant mice: requirement for a permissive microenvironment.神经嵴细胞无法定殖于ls/ls突变小鼠的假定无神经节肠段：对许可性微环境的需求。
J Comp Neurol. 1987 Jan 15;255(3):425-38. doi: 10.1002/cne.902550309.
8
Development profile of neuron-specific enolase in human gut and its implications in Hirschsprung's disease.人肠道中神经元特异性烯醇化酶的发育概况及其在先天性巨结肠病中的意义。
Gastroenterology. 1986 Jun;90(6):1901-6. doi: 10.1016/0016-5085(86)90259-3.
9
Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate.先天性通气、胃肠蠕动及心率自动控制功能衰竭。
Medicine (Baltimore). 1978 Nov;57(6):517-26. doi: 10.1097/00005792-197811000-00003.