Unusual Findings in Down’s Syndrome: Hand Agenesis and Hypospadias

A baby with Down syndrome presented initial findings at the first-trimester ultrasound of increased nuchal thickness and unilateral hand agenesis. During follow-up, other elements were found mainly hypospadias. This report emphasizes through prenatal and postnatal imaging the phenotypic variability...

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Detalles Bibliográficos
Autores principales: Kesrouani, Assaad, Obeid, Reem, Daou, Linda, Saliba, Zakhia, Sleilaty, Fadi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9824746/
https://www.ncbi.nlm.nih.gov/pubmed/36628023
http://dx.doi.org/10.7759/cureus.32311
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author Kesrouani, Assaad
Obeid, Reem
Daou, Linda
Saliba, Zakhia
Sleilaty, Fadi
author_facet Kesrouani, Assaad
Obeid, Reem
Daou, Linda
Saliba, Zakhia
Sleilaty, Fadi
author_sort Kesrouani, Assaad
collection PubMed
description A baby with Down syndrome presented initial findings at the first-trimester ultrasound of increased nuchal thickness and unilateral hand agenesis. During follow-up, other elements were found mainly hypospadias. This report emphasizes through prenatal and postnatal imaging the phenotypic variability of Down syndrome babies.
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spelling pubmed-98247462023-01-09 Unusual Findings in Down’s Syndrome: Hand Agenesis and Hypospadias Kesrouani, Assaad Obeid, Reem Daou, Linda Saliba, Zakhia Sleilaty, Fadi Cureus Genetics A baby with Down syndrome presented initial findings at the first-trimester ultrasound of increased nuchal thickness and unilateral hand agenesis. During follow-up, other elements were found mainly hypospadias. This report emphasizes through prenatal and postnatal imaging the phenotypic variability of Down syndrome babies. Cureus 2022-12-08 /pmc/articles/PMC9824746/ /pubmed/36628023 http://dx.doi.org/10.7759/cureus.32311 Text en Copyright © 2022, Kesrouani et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Kesrouani, Assaad
Obeid, Reem
Daou, Linda
Saliba, Zakhia
Sleilaty, Fadi
Unusual Findings in Down’s Syndrome: Hand Agenesis and Hypospadias
title Unusual Findings in Down’s Syndrome: Hand Agenesis and Hypospadias
title_full Unusual Findings in Down’s Syndrome: Hand Agenesis and Hypospadias
title_fullStr Unusual Findings in Down’s Syndrome: Hand Agenesis and Hypospadias
title_full_unstemmed Unusual Findings in Down’s Syndrome: Hand Agenesis and Hypospadias
title_short Unusual Findings in Down’s Syndrome: Hand Agenesis and Hypospadias
title_sort unusual findings in down’s syndrome: hand agenesis and hypospadias
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9824746/
https://www.ncbi.nlm.nih.gov/pubmed/36628023
http://dx.doi.org/10.7759/cureus.32311
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