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.
Clin Case Rep
; 6(11): 2256-2261, 2018 Nov.
Article
em En
| MEDLINE
| ID: mdl-30455932
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
País/Região como assunto:
Caribe
Idioma:
En
Revista:
Clin Case Rep
Ano de publicação:
2018
Tipo de documento:
Article
País de publicação:
Reino Unido