Coexisting urogenital anomaly and duodenal atresia in two atypical Holt–Oram syndrome

Holt–Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe...

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Autores principales: Ali, Tuncer Ahmet, Afra, Karavelioğlu, Didem, Baskin Embleton, Muhsin, Elmas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4980884/
https://www.ncbi.nlm.nih.gov/pubmed/27695215
http://dx.doi.org/10.4103/0971-9261.186552
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author Ali, Tuncer Ahmet
Afra, Karavelioğlu
Didem, Baskin Embleton
Muhsin, Elmas
author_facet Ali, Tuncer Ahmet
Afra, Karavelioğlu
Didem, Baskin Embleton
Muhsin, Elmas
author_sort Ali, Tuncer Ahmet
collection PubMed
description Holt–Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe kidney that have not been reported in English literature.
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spelling pubmed-49808842016-10-01 Coexisting urogenital anomaly and duodenal atresia in two atypical Holt–Oram syndrome Ali, Tuncer Ahmet Afra, Karavelioğlu Didem, Baskin Embleton Muhsin, Elmas J Indian Assoc Pediatr Surg Case Report Holt–Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe kidney that have not been reported in English literature. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC4980884/ /pubmed/27695215 http://dx.doi.org/10.4103/0971-9261.186552 Text en Copyright: © 2016 Journal of Indian Association of Pediatric Surgeons http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Ali, Tuncer Ahmet
Afra, Karavelioğlu
Didem, Baskin Embleton
Muhsin, Elmas
Coexisting urogenital anomaly and duodenal atresia in two atypical Holt–Oram syndrome
title Coexisting urogenital anomaly and duodenal atresia in two atypical Holt–Oram syndrome
title_full Coexisting urogenital anomaly and duodenal atresia in two atypical Holt–Oram syndrome
title_fullStr Coexisting urogenital anomaly and duodenal atresia in two atypical Holt–Oram syndrome
title_full_unstemmed Coexisting urogenital anomaly and duodenal atresia in two atypical Holt–Oram syndrome
title_short Coexisting urogenital anomaly and duodenal atresia in two atypical Holt–Oram syndrome
title_sort coexisting urogenital anomaly and duodenal atresia in two atypical holt–oram syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4980884/
https://www.ncbi.nlm.nih.gov/pubmed/27695215
http://dx.doi.org/10.4103/0971-9261.186552
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