Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report

This case report is of a 35‐week female neonate with a cystic abdominal mass. Physical examination was notable for post‐axial polydactyly, distended abdomen, and abnormal urethral opening. Differential diagnosis includes Bardet–Biedl Syndrome (BBS), an autosomal recessive ciliopathy. Genetic panel r...

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Detalles Bibliográficos
Autores principales: Day, Morgan L., Avila, Crystal C., Novak, Dawn L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8850395/
https://www.ncbi.nlm.nih.gov/pubmed/35223016
http://dx.doi.org/10.1002/ccr3.5453
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author Day, Morgan L.
Avila, Crystal C.
Novak, Dawn L.
author_facet Day, Morgan L.
Avila, Crystal C.
Novak, Dawn L.
author_sort Day, Morgan L.
collection PubMed
description This case report is of a 35‐week female neonate with a cystic abdominal mass. Physical examination was notable for post‐axial polydactyly, distended abdomen, and abnormal urethral opening. Differential diagnosis includes Bardet–Biedl Syndrome (BBS), an autosomal recessive ciliopathy. Genetic panel revealed she was a carrier for a BBS mutation.
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spelling pubmed-88503952022-02-25 Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report Day, Morgan L. Avila, Crystal C. Novak, Dawn L. Clin Case Rep Case Reports This case report is of a 35‐week female neonate with a cystic abdominal mass. Physical examination was notable for post‐axial polydactyly, distended abdomen, and abnormal urethral opening. Differential diagnosis includes Bardet–Biedl Syndrome (BBS), an autosomal recessive ciliopathy. Genetic panel revealed she was a carrier for a BBS mutation. John Wiley and Sons Inc. 2022-02-16 /pmc/articles/PMC8850395/ /pubmed/35223016 http://dx.doi.org/10.1002/ccr3.5453 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Day, Morgan L.
Avila, Crystal C.
Novak, Dawn L.
Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report
title Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report
title_full Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report
title_fullStr Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report
title_full_unstemmed Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report
title_short Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report
title_sort hydrometrocolpos and postaxial polydactyly in a girl newborn: a case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8850395/
https://www.ncbi.nlm.nih.gov/pubmed/35223016
http://dx.doi.org/10.1002/ccr3.5453
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