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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.
Clinical Case Reports 2018 November
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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