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

Amr Wardeh; Tyson Jackson; Beverly Nelson; Carl Ernst; Jean François Théroux; Walla Al-Hertani; Andrew K. Sobering; Mary C. Maj

doi:10.1002/ccr3.1873

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

Amr Wardeh, Tyson Jackson, Beverly Nelson, Carl Ernst, Jean François Théroux, Walla Al-Hertani, Andrew K. Sobering, Mary C. Maj

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	2256-2261
Number of pages	6
Journal	Clinical Case Reports
Volume	6
Issue number	11
DOIs	https://doi.org/10.1002/ccr3.1873
State	Published - Nov 2018
Externally published	Yes

Keywords

COL5A1
Ehlers-Danlos syndrome
developmental delay
limited medical resources

ASJC Scopus subject areas

Medicine(all)

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10.1002/ccr3.1873

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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",

abstract = "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.",

keywords = "COL5A1, Ehlers-Danlos syndrome, developmental delay, limited medical resources",

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year = "2018",

month = nov,

doi = "10.1002/ccr3.1873",

language = "English (US)",

volume = "6",

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AU - Wardeh, Amr

AU - Jackson, Tyson

AU - Nelson, Beverly

AU - Ernst, Carl

AU - Théroux, Jean François

AU - Al-Hertani, Walla

AU - Sobering, Andrew K.

AU - Maj, Mary C.

PY - 2018/11

Y1 - 2018/11

N2 - 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.

AB - 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.

KW - COL5A1

KW - Ehlers-Danlos syndrome

KW - developmental delay

KW - limited medical resources

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JO - Clinical Case Reports

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IS - 11

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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