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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.
Wardeh, Amr; Jackson, Tyson; Nelson, Beverly; Ernst, Carl; Théroux, Jean-François; Al-Hertani, Walla; Sobering, Andrew K; Maj, Mary C.
Afiliação
  • Wardeh A; Department of Biochemistry St. George's University St. George's Grenada.
  • Jackson T; Department of Biochemistry St. George's University St. George's Grenada.
  • Nelson B; Pediatrics Ward Grenada General Hospital St. George's Grenada.
  • Ernst C; Department of Psychiatry McGill University Montreal Québec Canada.
  • Théroux JF; Department of Psychiatry McGill University Montreal Québec Canada.
  • Al-Hertani W; Department of Medical Genetics, Cummings School of Medicine University of Calgary, Alberta Children's Hospital Calgary Alberta Canada.
  • Sobering AK; Department of Biochemistry St. George's University St. George's Grenada.
  • Maj MC; Department of Biochemistry St. George's University St. George's Grenada.
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.
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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
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

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