Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
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.
Alkuraya
Fowzan S
FS
Division of Genetics and Metabolism, Children's Hospital Boston, Harvard Medical School, MA 02115, USA. Fowzan.Alkuraya@childrens.harvard.edu
Picker
Jonathan
J
Irons
Mira B
MB
Kimonis
Virginia E
VE
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*
D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase