先天性巨结肠症与先天性耳聋。
Hirschsprung's disease and congenital deafness.
作者信息
Skinner R, Irvine D
出版信息
J Med Genet. 1973 Dec;10(4):337-9. doi: 10.1136/jmg.10.4.337.
Abstract
An association of Hirschsprung's disease (congenital intestinal aganglionosis) and profound congenital deafness is described in four unrelated patients and another reported case which was found in the literature. It is suggested that this might represent a new syndrome.
摘要
在4例无亲缘关系的患者以及文献中报道的另一例患者中，描述了先天性巨结肠（先天性肠神经节缺失症）与重度先天性耳聋之间的关联。有人认为这可能代表一种新的综合征。
相似文献
1
Hirschsprung's disease and congenital deafness.先天性巨结肠症与先天性耳聋。
J Med Genet. 1973 Dec;10(4):337-9. doi: 10.1136/jmg.10.4.337.
2
Letter: Hirschsprung's disease and congenital deafness.信件：先天性巨结肠症与先天性耳聋
J Med Genet. 1975 Mar;12(1):114-5. doi: 10.1136/jmg.12.1.114-a.
3
Hirschsprung's disease and congenital deafness. Familial assocation.
Hum Genet. 1977 Sep 22;38(2):157-61. doi: 10.1007/BF00527397.
4
Congenital deafness and Hirschsprung's disease.
N Engl J Med. 1973 Mar 29;288(13):691. doi: 10.1056/nejm197303292881321.
5
[Hirschsprung's disease in adolescents and adults].[青少年及成人先天性巨结肠症]
Minerva Med. 1981 Dec 8;72(49):3309-14.
6
Ichthyosis, deafness, and Hirschsprung's disease.鱼鳞病、耳聋和先天性巨结肠症。
Pediatr Dermatol. 1989 Mar;6(1):24-7. doi: 10.1111/j.1525-1470.1989.tb00262.x.
7
Hirschsprung's disease and congenital megacolon.先天性巨结肠症与先天性巨结肠
Calif Med. 1952 Apr;76(4):276-80.
8
[Perforation of the cecum in the newborn due to Hirschsprung's disease].[新生儿先天性巨结肠导致的盲肠穿孔]
Harefuah. 1973 Feb 15;84(4):222-3.
9
Complications of Hirschsprung's disease in the adult.
Am J Gastroenterol. 1974 May;61(5):390-3.
10
The enterocolitis of Hirschsprung's disease.先天性巨结肠的小肠结肠炎
J Clin Gastroenterol. 1979 Sep;1(3):248-9. doi: 10.1097/00004836-197909000-00012.
引用本文的文献
1
Hirschsprung disease and hepatoblastoma: case report of a rare association.先天性巨结肠症与肝母细胞瘤：罕见关联病例报告
Sao Paulo Med J. 2016 Apr;134(2):171-5. doi: 10.1590/1516-3180.2014.9200311. Epub 2015 Oct 9.
2
A prospective observational study of associated anomalies in Hirschsprung's disease.先天性巨结肠症相关畸形的前瞻性观察研究。
Orphanet J Rare Dis. 2013 Nov 23;8:184. doi: 10.1186/1750-1172-8-184.
3
USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1.USH1K，一种新型 I 型 Usher 综合征基因座，定位于 10p11.21-q21.1。
J Hum Genet. 2012 Oct;57(10):633-7. doi: 10.1038/jhg.2012.79. Epub 2012 Jun 21.
4
Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.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。
J Med Genet. 1988 Mar;25(3):204-5. doi: 10.1136/jmg.25.3.204.
5
Letter: Hirschsprung's disease and congenital deafness.信件：先天性巨结肠症与先天性耳聋
J Med Genet. 1975 Mar;12(1):114-5. doi: 10.1136/jmg.12.1.114-a.
6
Hirschsprung's disease and congenital deafness. Familial assocation.
Hum Genet. 1977 Sep 22;38(2):157-61. doi: 10.1007/BF00527397.
本文引用的文献
1
PROFOUND CHILDHOOD DEAFNESS.重度儿童期耳聋
J Med Genet. 1964 Dec;1(2):118-51. doi: 10.1136/jmg.1.2.118.
2
Deafness as part of an hereditary syndrome.作为遗传性综合征一部分的耳聋。
J Laryngol Otol. 1959 Jun;73:355-82. doi: 10.1017/s0022215100055420.
3
The origin of intrinsic ganglia of trunk viscera from vagal neural crest in the chick embryo.鸡胚中内脏固有神经节起源于迷走神经嵴。
J Comp Neurol. 1954 Oct;101(2):515-41. doi: 10.1002/cne.901010212.
4
The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families.
N Engl J Med. 1967 Jan 19;276(3):138-43. doi: 10.1056/NEJM196701192760303.
Zotero 插件