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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2018
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| Materias: | |
| 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 |