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

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

doi:10.1002/bdra.20165

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

Fowzan S. Alkuraya^*, Jonathan Picker, Mira B. Irons, Virginia E. Kimonis

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

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.

Original language	English (US)
Pages (from-to)	569-571
Number of pages	3
Journal	Birth Defects Research Part A - Clinical and Molecular Teratology
Volume	73
Issue number	8
DOIs	https://doi.org/10.1002/bdra.20165
State	Published - Aug 2005
Externally published	Yes

Keywords

Neonate
SLOS
Shawl-like scrotum
Syndactyly
Trisomy 13

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Embryology
Developmental Biology

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10.1002/bdra.20165

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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. 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.",

keywords = "Neonate, SLOS, Shawl-like scrotum, Syndactyly, Trisomy 13",

author = "Alkuraya, {Fowzan S.} and Jonathan Picker and Irons, {Mira B.} and Kimonis, {Virginia E.}",

year = "2005",

month = aug,

doi = "10.1002/bdra.20165",

language = "English (US)",

volume = "73",

pages = "569--571",

journal = "Teratology",

issn = "1542-0752",

publisher = "Wiley-Liss Inc.",

number = "8",

}

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T1 - Smith-Lemli-Opitz syndrome in trisomy 13

T2 - How does the mix work?

AU - Alkuraya, Fowzan S.

AU - Picker, Jonathan

AU - Irons, Mira B.

AU - Kimonis, Virginia E.

PY - 2005/8

Y1 - 2005/8

N2 - 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.

AB - 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.

KW - Neonate

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KW - Shawl-like scrotum

KW - Syndactyly

KW - Trisomy 13

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

Abstract

Keywords

ASJC Scopus subject areas

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