Identification of a de novo case of COL5A1‐related Ehlers‐Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care

A 1‐year‐old girl from an underserved community presented with irritability, pain, and delayed motor skills. Our genetics outreach program facilitated the diagnosis of Ehlers‐Danlos syndrome masquerading as developmental delay after noting hyperextensible skin. Diagnosis for this family allows for s...

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Detalles Bibliográficos
Autores principales: Wardeh, Amr, Jackson, Tyson, Nelson, Beverly, Ernst, Carl, Théroux, Jean‐François, Al‐Hertani, Walla, Sobering, Andrew K., Maj, Mary C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230631/
https://www.ncbi.nlm.nih.gov/pubmed/30455932
http://dx.doi.org/10.1002/ccr3.1873
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author Wardeh, Amr
Jackson, Tyson
Nelson, Beverly
Ernst, Carl
Théroux, Jean‐François
Al‐Hertani, Walla
Sobering, Andrew K.
Maj, Mary C.
author_facet Wardeh, Amr
Jackson, Tyson
Nelson, Beverly
Ernst, Carl
Théroux, Jean‐François
Al‐Hertani, Walla
Sobering, Andrew K.
Maj, Mary C.
author_sort Wardeh, Amr
collection PubMed
description A 1‐year‐old girl from an underserved community presented with irritability, pain, and delayed motor skills. Our genetics outreach program facilitated the diagnosis of Ehlers‐Danlos syndrome masquerading as developmental delay after noting hyperextensible skin. Diagnosis for this family allows for state‐of‐the‐art cardiac monitoring and appropriate symptomatic treatment for this rare disease.
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spelling pubmed-62306312018-11-19 Identification of a de novo case of COL5A1‐related Ehlers‐Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care Wardeh, Amr Jackson, Tyson Nelson, Beverly Ernst, Carl Théroux, Jean‐François Al‐Hertani, Walla Sobering, Andrew K. Maj, Mary C. Clin Case Rep Case Reports A 1‐year‐old girl from an underserved community presented with irritability, pain, and delayed motor skills. Our genetics outreach program facilitated the diagnosis of Ehlers‐Danlos syndrome masquerading as developmental delay after noting hyperextensible skin. Diagnosis for this family allows for state‐of‐the‐art cardiac monitoring and appropriate symptomatic treatment for this rare disease. John Wiley and Sons Inc. 2018-10-15 /pmc/articles/PMC6230631/ /pubmed/30455932 http://dx.doi.org/10.1002/ccr3.1873 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://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
Wardeh, Amr
Jackson, Tyson
Nelson, Beverly
Ernst, Carl
Théroux, Jean‐François
Al‐Hertani, Walla
Sobering, Andrew K.
Maj, Mary C.
Identification of a de novo case of COL5A1‐related Ehlers‐Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care
title Identification of a de novo case of COL5A1‐related Ehlers‐Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care
title_full Identification of a de novo case of COL5A1‐related Ehlers‐Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care
title_fullStr Identification of a de novo case of COL5A1‐related Ehlers‐Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care
title_full_unstemmed Identification of a de novo case of COL5A1‐related Ehlers‐Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care
title_short Identification of a de novo case of COL5A1‐related Ehlers‐Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care
title_sort identification of a de novo case of col5a1‐related ehlers‐danlos syndrome in an infant in the west indies leading to improved targeted clinical care
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230631/
https://www.ncbi.nlm.nih.gov/pubmed/30455932
http://dx.doi.org/10.1002/ccr3.1873
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