| Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. | |
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MedLine Citation:
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PMID: 22226660 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation syndrome caused by dehydrocholesterol reductase deficiency. The diagnosis is confirmed by high 7- and secondarily 8-dehydrocholesterol levels in plasma and tissues and/or by detection of biallelic mutations in the DHCR7 gene. The phenotypic spectrum of SLOS is broad, ranging from a mild phenotype combining subtle physical anomalies with behavioral and learning problems, to a perinatally lethal multiple malformations syndrome. The fetal phenotype of SLOS has been poorly described in the literature. We report a series of 10 fetuses with molecularly proven SLOS. Even in young fetuses, the facial dysmorphism appears characteristic. Genital abnormalities are rare in 46,XX subjects. Gonadal differentiation appears histologically normal and in agreement with the chromosomal sex, contrary to what has been previously stated. We observed some previously unreported anomalies: ulnar hypoplasia, vertebral segmentation anomalies, congenital pulmonary adenomatoid malformation, fused lungs, laparoschisis, holomyelia and hypothalamic hamartoma. This latter malformation proves that SLOS phenotypically overlaps with Pallister-Hall syndrome which remains clinically a major differential diagnosis of SLOS. |
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Authors:
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Chloé Quélin; Philippe Loget; Alain Verloes; Anne Bazin; Bettina Bessières; Annie Laquerrière; Sophie Patrier; Romulus Grigorescu; Ferechté Encha-Razavi; Sophie Delahaye; Jean-Marie Jouannic; Bruno Carbonne; Dominique D'Hervé; Marie-Cécile Aubry; Guillaume Macé; Thierry Harvey; Yves Ville; Geraldine Viot; Nicole Joyé; Sylvie Odent; Tania Attié-Bitach; Claude Wolf; Françoise Chevy; Pascale Benlian; Marie Gonzales |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-12-22 |
Journal Detail:
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Title: European journal of medical genetics Volume: - ISSN: 1878-0849 ISO Abbreviation: - Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2012-1-9 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Elsevier Masson SAS. All rights reserved. |
Affiliation:
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Clinical Genetics Unit, Rennes Sud University Hospital, Rennes, France. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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