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

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

Abstract 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...

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Bibliographic Details
Main Authors: Chamara Jayamanne, Sajith Sandamal, Kasun Jayasundara, Mayoorathy Saranavabavananthan, Sachith Mettananda
Format: Article
Language:English
Published: BMC 2018-08-01
Series:Journal of Medical Case Reports
Subjects:
Smith–Lemli–Opitz syndrome
Adrenal crisis
Cholesterol biosynthesis
Online Access:http://link.springer.com/article/10.1186/s13256-018-1738-4

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http://link.springer.com/article/10.1186/s13256-018-1738-4

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