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[Rokitansky-Küstner syndrome (absent vagina, rudimentary uterus) associated with renal aplasia, phokomelia and Klippel-Feil anomaly (author's transl)].

作者信息

Kords H

出版信息

Geburtshilfe Frauenheilkd. 1976 Aug;36(8):672-7.

PMID:976708
Abstract

A case of multiple malformations, absent vagina, rudimentary uterus (Rokitansky-Küstner syndrome), renal aplasia, fusion of the cervical vertebral bones (Klippel-Feil anomaly) and phokomelia is presented. Association of absent vagina and Klippel-Feil anomaly is variously reported, however in this case these anomalies are associated with phokomelia. Etiology of these malformations is discussed with the view to similarity to the Thalidomide syndrome.

摘要

相似文献

1
[Rokitansky-Küstner syndrome (absent vagina, rudimentary uterus) associated with renal aplasia, phokomelia and Klippel-Feil anomaly (author's transl)].
Geburtshilfe Frauenheilkd. 1976 Aug;36(8):672-7.
2
Azoospermia with Klippel-Feil anomaly.无精子症合并Klippel-Feil畸形。
Int J Urol. 2008 Feb;15(2):188-9. doi: 10.1111/j.1442-2042.2007.01856.x.
3
[Genital and extragenital abnormalities in Mayer-Rokitansky-Küster syndrome].[迈耶-罗基坦斯基-库斯特综合征中的生殖器及生殖器外异常]
Dtsch Med Wochenschr. 1988 Jul 8;113(27):1092-6. doi: 10.1055/s-2008-1067773.
4
Agenesis of the right internal carotid artery and Klippel-Feil syndrome: case report.右侧颈内动脉发育不全与克-费综合征:病例报告
Spine (Phila Pa 1976). 2009 Sep 15;34(20):E740-2. doi: 10.1097/BRS.0b013e3181b41181.
5
Klippel-Feil anomaly with associated rudimentary cervical ribs in a human skeleton: case report and review of the literature.
Folia Morphol (Warsz). 2006 Feb;65(1):92-4.
6
Extensive genitourinary anomalies associated with Klippel-Feil syndrome.
Am J Dis Child. 1974 Jul;128(1):92-3. doi: 10.1001/archpedi.1974.02110260094019.
7
[A case of Mayer-Rokitansky-Kuester-syndrome combined with extragenital malformations (author's transl)].
Geburtshilfe Frauenheilkd. 1973 Dec;33(12):999-1003.
8
Combination of the Mayer-Rokitansky-Küster and Klippel-Feil syndrome--a case report and literature review.
Eur J Obstet Gynecol Reprod Biol. 1982 Jun;13(4):229-35. doi: 10.1016/0028-2243(82)90104-6.
9
[Mayer-Rokitansky syndrome. Case report].
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10
[Urinary malformations in synostoses of the cervical vertebrae (Klippel-Feil syndrome). Apropos of 35 cases].[颈椎融合(克-费综合征)中的泌尿生殖系统畸形。附35例报告]
Ann Urol (Paris). 1984 Jun-Jul;18(4):232-5.

引用本文的文献

1
Autosomal recessive Klippel-Feil syndrome.常染色体隐性克-费综合征
J Med Genet. 1982 Apr;19(2):130-4. doi: 10.1136/jmg.19.2.130.
2
Evaluation of radiographic abnormalities of the hand in patients with the Mayer-Rokitansky-Küster-Hauser syndrome.
Skeletal Radiol. 1987;16(3):227-31. doi: 10.1007/BF00356958.