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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...
में बचाया:
| में प्रकाशित: | J Med Case Rep |
|---|---|
| मुख्य लेखकों: | , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BioMed Central
2018
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6085650/ https://ncbi.nlm.nih.gov/pubmed/30092813 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-018-1738-4 |
| टैग : |
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