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. 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. Biochemica...

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Published in:Birth defects research. A Clinical and molecular teratology 2005-08, Vol.73 (8), p.569-571
Main Authors: Alkuraya, Fowzan S., Picker, Jonathan, Irons, Mira B., Kimonis, Virginia E.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Biological and medical sciences
Chromosomes, Human, Pair 13
Disorders of blood lipids. Hyperlipoproteinemia
Humans
Infant, Newborn
Male
Medical sciences
Metabolic diseases
neonate
Oxidoreductases Acting on CH-CH Group Donors - genetics
shawl‐like scrotum
SLOS
Smith-Lemli-Opitz Syndrome - diagnosis
Smith-Lemli-Opitz Syndrome - genetics
Smith-Lemli-Opitz Syndrome - pathology
syndactyly
Trisomy - diagnosis
Trisomy - genetics
Trisomy - pathology
trisomy 13
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Summary: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.
ISSN:1542-0752
1542-0760
DOI:10.1002/bdra.20165