Smith–Lemli–Opitz syndrome presenting as acute adrenal crisis in a child: a case report

BACKGROUND: Smith–Lemli–Opitz syndrome is a rare autosomal recessive disorder of cholesterol biosynthesis which is characterized by multiple congenital malformations and global developmental delay. Here we report the case of a 3-year-old, previously undiagnosed, child with Smith–Lemli–Opitz syndrome...

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Detalles Bibliográficos
Autores principales: Jayamanne, Chamara, Sandamal, Sajith, Jayasundara, Kasun, Saranavabavananthan, Mayoorathy, Mettananda, Sachith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085650/
https://www.ncbi.nlm.nih.gov/pubmed/30092813
http://dx.doi.org/10.1186/s13256-018-1738-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085650/
https://www.ncbi.nlm.nih.gov/pubmed/30092813
http://dx.doi.org/10.1186/s13256-018-1738-4

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