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  • Title: Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
    Author: Alkuraya FS, Picker J, Irons MB, Kimonis VE.
    Journal: Birth Defects Res A Clin Mol Teratol; 2005 Aug; 73(8):569-71. PubMed ID: 15965973.
    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.
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