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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 |
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| Main Authors: | , , , |
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| container_end_page | 571 |
| container_issue | 8 |
| container_start_page | 569 |
| container_title | Birth defects research. A Clinical and molecular teratology |
| container_volume | 73 |
| creator | Alkuraya, Fowzan S. Picker, Jonathan Irons, Mira B. Kimonis, Virginia E. |
| description | 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. |
| doi_str_mv | 10.1002/bdra.20165 |
| format | article |
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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.</description><identifier>ISSN: 1542-0752</identifier><identifier>EISSN: 1542-0760</identifier><identifier>DOI: 10.1002/bdra.20165</identifier><identifier>PMID: 15965973</identifier><identifier>CODEN: BDRPBT</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>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</subject><ispartof>Birth defects research. A Clinical and molecular teratology, 2005-08, Vol.73 (8), p.569-571</ispartof><rights>Copyright © 2005 Wiley‐Liss, Inc.</rights><rights>2005 INIST-CNRS</rights><rights>Copyright 2005 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3935-c808553995f61530f82bf2ceec5a64863c8c234a2149a0412fcf9a577e053a673</citedby><cites>FETCH-LOGICAL-c3935-c808553995f61530f82bf2ceec5a64863c8c234a2149a0412fcf9a577e053a673</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17036688$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15965973$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Alkuraya, Fowzan S.</creatorcontrib><creatorcontrib>Picker, Jonathan</creatorcontrib><creatorcontrib>Irons, Mira B.</creatorcontrib><creatorcontrib>Kimonis, Virginia E.</creatorcontrib><title>Smith‐Lemli‐Opitz syndrome in trisomy 13: How does the mix work?</title><title>Birth defects research. A Clinical and molecular teratology</title><addtitle>Birth Defects Res A Clin Mol Teratol</addtitle><description>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.</description><subject>Abnormalities, Multiple - diagnosis</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Abnormalities, Multiple - pathology</subject><subject>Biological and medical sciences</subject><subject>Chromosomes, Human, Pair 13</subject><subject>Disorders of blood lipids. Hyperlipoproteinemia</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>neonate</subject><subject>Oxidoreductases Acting on CH-CH Group Donors - genetics</subject><subject>shawl‐like scrotum</subject><subject>SLOS</subject><subject>Smith-Lemli-Opitz Syndrome - diagnosis</subject><subject>Smith-Lemli-Opitz Syndrome - genetics</subject><subject>Smith-Lemli-Opitz Syndrome - pathology</subject><subject>syndactyly</subject><subject>Trisomy - diagnosis</subject><subject>Trisomy - genetics</subject><subject>Trisomy - pathology</subject><subject>trisomy 13</subject><issn>1542-0752</issn><issn>1542-0760</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><recordid>eNp90LtOwzAYBWALgWgpLDwA8gIDUoovsZ2woNICRapUicscuY6jGpK42KlKmHgEnpEnISUV3Zj-f_h0jnQAOMaojxEiF7PUyT5BmLMd0MUsJAESHO3-_Yx0wIH3L42lQoh90MEs5iwWtAtGj4Wp5t-fXxNd5Ka504WpPqCvy9TZQkNTwsoZb4saYnoJx3YFU6s9rOYaFuYdrqx7vToEe5nMvT7a3B54vr15Go6DyfTufjiYBIrGlAUqQhFjNI5ZxjGjKIvILCNKa8UkDyNOVaQIDSXBYSxRiEmmslgyITRiVHJBe-CszV04-7bUvkoK45XOc1lqu_QJj0JBQ8IaeN5C5az3TmfJwplCujrBKFlvlqw3S343a_DJJnU5K3S6pZuRGnC6AdIrmWdOlsr4rROIch5FjcOtW5lc1_9UJtejh0Fb_gNaYYM8</recordid><startdate>200508</startdate><enddate>200508</enddate><creator>Alkuraya, Fowzan S.</creator><creator>Picker, Jonathan</creator><creator>Irons, Mira B.</creator><creator>Kimonis, Virginia E.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200508</creationdate><title>Smith‐Lemli‐Opitz syndrome in trisomy 13: How does the mix work?</title><author>Alkuraya, Fowzan S. ; Picker, Jonathan ; Irons, Mira B. ; Kimonis, Virginia E.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3935-c808553995f61530f82bf2ceec5a64863c8c234a2149a0412fcf9a577e053a673</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Abnormalities, Multiple - diagnosis</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Abnormalities, Multiple - pathology</topic><topic>Biological and medical sciences</topic><topic>Chromosomes, Human, Pair 13</topic><topic>Disorders of blood lipids. Hyperlipoproteinemia</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>neonate</topic><topic>Oxidoreductases Acting on CH-CH Group Donors - genetics</topic><topic>shawl‐like scrotum</topic><topic>SLOS</topic><topic>Smith-Lemli-Opitz Syndrome - diagnosis</topic><topic>Smith-Lemli-Opitz Syndrome - genetics</topic><topic>Smith-Lemli-Opitz Syndrome - pathology</topic><topic>syndactyly</topic><topic>Trisomy - diagnosis</topic><topic>Trisomy - genetics</topic><topic>Trisomy - pathology</topic><topic>trisomy 13</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Alkuraya, Fowzan S.</creatorcontrib><creatorcontrib>Picker, Jonathan</creatorcontrib><creatorcontrib>Irons, Mira B.</creatorcontrib><creatorcontrib>Kimonis, Virginia E.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Birth defects research. A Clinical and molecular teratology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Alkuraya, Fowzan S.</au><au>Picker, Jonathan</au><au>Irons, Mira B.</au><au>Kimonis, Virginia E.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Smith‐Lemli‐Opitz syndrome in trisomy 13: How does the mix work?</atitle><jtitle>Birth defects research. A Clinical and molecular teratology</jtitle><addtitle>Birth Defects Res A Clin Mol Teratol</addtitle><date>2005-08</date><risdate>2005</risdate><volume>73</volume><issue>8</issue><spage>569</spage><epage>571</epage><pages>569-571</pages><issn>1542-0752</issn><eissn>1542-0760</eissn><coden>BDRPBT</coden><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. Birth Defects Research (Part A), 2005. © 2005 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>15965973</pmid><doi>10.1002/bdra.20165</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Birth defects research. A Clinical and molecular teratology, 2005-08, Vol.73 (8), p.569-571 |
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| language | eng |
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| source | Wiley |
| 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 |
| title | Smith‐Lemli‐Opitz syndrome in trisomy 13: How does the mix work? |
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