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Smith-Lemli-Opitz syndrome in trisomy 13: How does the mix work? by Fowzan S. Alkuraya; Jonathan Picker; Mira B. Irons; Virginia E. Kimonis is a Medicine article available to read on EtoBox.

What is Smith-Lemli-Opitz syndrome in trisomy 13: How does the mix work? about?

## Abstract ## BACKGROUND Trisomy 13 and Smith‐Lemli‐Opitz syndrome (SLOS) are both well‐recognized multiple congenital anomaly/mental retardation syndromes. ## CASE In this report we describe a male newborn with trisomy 13 who also has features of SLOS, such as 2/3 toe syndactyly and a shawl‐like scrotum. Biochemical analysis was consistent with SLOS, and limited molecular analysis revealed 1 mutation in the __DHCR7__ gene. ## CONCLUSIONS The challenges in establishing the diagnosis of SLOS in this patient are presented and the unique coexistence of the 2 major malformation syndromes is discussed. Given the overlapping phenotype of the 2 syndromes, our report should encourage further research on cholesterol biosynthesis in patients with trisomy 13. Birth Defects Research (Part A), 2005. © 2005 Wiley‐Liss, Inc.

Who reads Smith-Lemli-Opitz syndrome in trisomy 13: How does the mix work??

Author

Fowzan S. Alkuraya; Jonathan Picker; Mira B. Irons; Virginia E. Kimonis

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 1542-0752)

Published

2005

Language

EN

Field

Medicine (Health Sciences)