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The McKusick-Kaufman syndrome: recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease.

作者信息

Robinow M, Shaw A

出版信息

J Pediatr. 1979 May;94(5):776-8. doi: 10.1016/s0022-3476(79)80155-9.

DOI:10.1016/s0022-3476(79)80155-9
PMID:448491
Abstract
摘要

相似文献

1
The McKusick-Kaufman syndrome: recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease.
J Pediatr. 1979 May;94(5):776-8. doi: 10.1016/s0022-3476(79)80155-9.
2
[Postaxial polydactyly in a female neonate associated with hydrocolpos due to vaginal atresia and with a congenital cardiopathy: the McKusick-Kaufman syndrome].
J Genet Hum. 1982 Nov;30(4):329-37.
3
Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome.
Eur J Pediatr. 1981 Jul;136(3):297-305. doi: 10.1007/BF00442998.
4
Genetic and physical mapping of the McKusick-Kaufman syndrome.
Hum Mol Genet. 1998 Mar;7(3):475-81. doi: 10.1093/hmg/7.3.475.
5
Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?帕利斯特-霍尔综合征和麦库西克-考夫曼综合征：是同一实体吗？
J Med Genet. 1995 Feb;32(2):125-8. doi: 10.1136/jmg.32.2.125.
6
Fetal hydrometrocolpos with pre-axial mirror polydactyly as a new variant of McKusick-Kaufman syndrome.胎儿积水性尿道阴道积水伴前轴镜像多指畸形：一种新的 McKusick-Kaufman 综合征变异型。
J Clin Ultrasound. 2021 Jan;49(1):62-65. doi: 10.1002/jcu.22882. Epub 2020 Jun 14.
7
The McKusick-Kaufman hydrometrocolpos-polydactyly syndrome--a case report.
Changgeng Yi Xue Za Zhi. 1994 Jun;17(2):173-7.
8
McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period.麦库西克-考夫曼综合征：新生儿期腹胀的诊断挑战。
Eur J Pediatr. 1992 Aug;151(8):583-5. doi: 10.1007/BF01957727.
9
[Hydrometrocolpos, polydactylia and congenital heart defect (the McKusick-Dungy-Kaufman syndrome)].
Tijdschr Kindergeneeskd. 1984 Aug;52(4):129-33.
10
McKusick-Kaufman syndrome: report of the 66th case complicated by a staphyloma of the left eye.麦库西克-考夫曼综合征：第66例合并左眼葡萄肿的报告。
Padiatr Padol. 1991;26(4):193-6.

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Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.纤毛基因突变通过多种机制导致房室间隔缺损。
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Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.
Bbs2基因敲除小鼠存在神经感觉缺陷、社会优势缺陷以及与视紫红质定位错误相关的视网膜病变。
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4
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).比较基因组分析确定一个ADP核糖基化因子样基因是巴德-比德尔综合征（BBS3）的病因。
Am J Hum Genet. 2004 Sep;75(3):475-84. doi: 10.1086/423903. Epub 2004 Jul 16.
5
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.阴道积水并多指（趾）畸形：巴德-比德尔综合征和麦库西克-考夫曼综合征常见的新生儿表现。
J Med Genet. 1999 Aug;36(8):599-603.
6
Hydrometrocolpos--polydactyly syndrome in a macerated female foetus.
Eur J Pediatr. 1981 Jul;136(3):307-9. doi: 10.1007/BF00442999.
7
Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome.
Eur J Pediatr. 1981 Jul;136(3):297-305. doi: 10.1007/BF00442998.