title: Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
abstract: BACKGROUND
  Trisomy 13 and Smith-Lemli-Opitz syndrome (SLOS) are both well-recognized multiple congenital anomaly/mental retardation syndromes.
  
  
  METHODS
  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.
authors.affiliation: Division of Genetics and Metabolism, Children's Hospital Boston, Harvard Medical School, MA 02115, USA. Fowzan.Alkuraya@childrens.harvard.edu
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
authors.forename: Jonathan
authors.initials: J
authors.lastname: Picker
authors.forename: Mira B
authors.initials: MB
authors.lastname: Irons
authors.forename: Virginia E
authors.initials: VE
authors.lastname: Kimonis
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D002882:Chromosomes, Human, Pair 13; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*
chemical_list: D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase