Genital abnormalities in females with Bardet-Biedl syndrome - PubMed (original) (raw)
Review
. 1995 Jan 30;55(3):276-8.
doi: 10.1002/ajmg.1320550306.
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- PMID: 7726222
- DOI: 10.1002/ajmg.1320550306
Review
Genital abnormalities in females with Bardet-Biedl syndrome
J M Stoler et al. Am J Med Genet. 1995.
Abstract
The major manifestations of the Bardet-Biedl syndrome are digital anomalies, tapetoretinal degeneration, obesity, renal abnormalities, and hypogenitalism (described mainly in males). We report on 2 girls with Bardet-Biedl syndrome who also had vaginal atresia. A similar association in females with Bardet-Biedl syndrome was suggested in published reports of 11 affected individuals who had structural genital abnormalities, (some of which were missed in childhood), including persistent urogenital sinus, ectopic urethra, hypoplasia of the uterus, ovaries and fallopian tubes, uterus duplex, and septate vagina. The association of atresia of the vagina and other malformations of female genital structures in individuals with Bardet-Biedl syndrome has often been missed in childhood and should be looked for more systematically.
Comment in
- Hydrometrocolpos as a neonatal manifestation of the Bardet-Biedl syndrome.
Mehrotra N, Taub S, Covert RF. Mehrotra N, et al. Am J Med Genet. 1997 Mar 17;69(2):220. Am J Med Genet. 1997. PMID: 9056566 No abstract available.
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