Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. Bardet-Biedl syndrome (BBS) is the generic name for a genetically heterogene...

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Bibliografiske detaljer
Main Authors: David, A., Bitoun, P., Lacombe, D., Lambert, J., Nivelon, A., Vigneron, J., Verloes, A.
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 1999
Fag:
Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1762973/
https://ncbi.nlm.nih.gov/pubmed/10465109
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