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先天性巨结肠合并多指畸形、单侧肾缺如、眼距过宽及先天性耳聋：一种新的常染色体隐性综合征。

Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.

作者信息

Santos H, Mateus J, Leal M J

机构信息

Department of Pediatrics, Santa Maria Hospital, Lisbon, Portugal.

出版信息

J Med Genet. 1988 Mar;25(3):204-5. doi: 10.1136/jmg.25.3.204.

DOI:10.1136/jmg.25.3.204
PMID:3351909
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015489/
Abstract

An association of Hirschsprung disease with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents. It is suggested that this might represent a new autosomal recessive syndrome.

摘要

在近亲结婚父母的同胞（兄妹）中，描述了一种先天性巨结肠与多指（趾）畸形、单侧肾发育不全、眼距过宽和先天性耳聋的关联。有人认为这可能代表一种新的常染色体隐性综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a67/1015489/aa3abdd5daf7/jmedgene00065-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a67/1015489/418239bb94e4/jmedgene00065-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a67/1015489/aa3abdd5daf7/jmedgene00065-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a67/1015489/418239bb94e4/jmedgene00065-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a67/1015489/aa3abdd5daf7/jmedgene00065-0061-a.jpg

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本文引用的文献

1
Neuroblastoma and Hirschsprung's disease.神经母细胞瘤和先天性巨结肠症。
Z Kinderchir. 1982 Jan;35(1):24-5. doi: 10.1055/s-2008-1059894.
2
Waardenburg's syndrome associated with total aganglionosis.Waardenburg综合征合并完全性无神经节症。
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Hirschsprung's disease and congenital deafness.先天性巨结肠症与先天性耳聋。
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Diminished Ret expression compromises neuronal survival in the colon and causes intestinal aganglionosis in mice.Ret表达减少会损害结肠中的神经元存活，并导致小鼠肠道神经节细胞缺失。
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Renal aplasia in humans is associated with RET mutations.人类肾发育不全与RET基因突变有关。
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6
The contribution of associated congenital anomalies in understanding Hirschsprung's disease.相关先天性异常在理解先天性巨结肠症中的作用。
Pediatr Surg Int. 2006 Apr;22(4):305-15. doi: 10.1007/s00383-006-1655-2. Epub 2006 Mar 4.
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Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature.与瓦登伯革综合征相关的肠道神经节缺如：两例报告及文献复习
Pediatr Surg Int. 2003 Dec;19(11):725-8. doi: 10.1007/s00383-003-1057-7. Epub 2003 Dec 23.
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Hirschsprung disease, associated syndromes, and genetics: a review.先天性巨结肠症、相关综合征与遗传学：综述
J Med Genet. 2001 Nov;38(11):729-39. doi: 10.1136/jmg.38.11.729.
9
Hirschsprung's disease: genetic mutations in mice and men.先天性巨结肠症：小鼠与人类中的基因突变
Gut. 1997 Oct;41(4):436-41. doi: 10.1136/gut.41.4.436.
10
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J Med Genet. 1989 Apr;26(4):287-8. doi: 10.1136/jmg.26.4.287.
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