Journal article

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates

Sarah E Donoghue, James J Pitt, Avihu Boneh, Susan M White

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | WALTER DE GRUYTER GMBH | Published : 2018

Abstract

BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the DHCR7 gene that result in reduced cholesterol biosynthesis. The aim of the study was to examine the biochemical and clinical features of SLOS in the context of the emerging evidence of the importance of cholesterol in morphogenesis and steroidogenesis. METHODS: We retrospectively reviewed the records of 18 patients (including four fetuses) with confirmed SLOS and documented their clinical and biochemical features. RESULTS: Seven patients had branchial arch abnormalities, including micrognathia, immune dysfunction and hypocalcemia. Thymic abnormalities were found in three fetuses. All f..

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Grants

Funding Acknowledgements

Study data were collected and managed on VICIEM, an in-house clinical databank for IEM using REDCap electronic data capture tools, hosted at the Murdoch Childrens Research Institute, Melbourne, Australia and supported by the Australian Communities Foundation, the N.E. Renton Bequest. This work was supported by the Victorian Government's Operational Infrastructure Support Program.