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 journalArticlepeer-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 languageEnglish (US)
Pages (from-to)2256-2261
Number of pages6
JournalClinical Case Reports
Volume6
Issue number11
DOIs
StatePublished - Nov 2018
Externally publishedYes

Keywords

  • COL5A1
  • developmental delay
  • Ehlers-Danlos syndrome
  • limited medical resources

ASJC Scopus subject areas

  • Medicine(all)

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