1.
Clin Case Rep
; 6(11): 2256-2261, 2018 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30455932
RESUMO
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.