Smith-Lemli-Opitz Syndrome: Autopsy with New Morphological Findings

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dc.contributor.authorDoğan, K. H.
dc.contributor.authorAtabek, M. E.
dc.contributor.authorDemirci, S.
dc.contributor.authorÜnver Doğan, N.
dc.date.accessioned2020-03-26T18:05:00Z
dc.date.available2020-03-26T18:05:00Z
dc.date.issued2010
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractA nine-month-old infant was transported to hospital where he was pronounced dead upon arrival. He was diagnosed with Smith-LemliOpitz Syndrome (SLOS) when he was three months old and he had been treated since then. A week ago, he was discharged from hospital after having had treatment for acute renal failure. His parents were relatives (Fig. 1). Chromosomal analysis revealed a normal male karyotype (46, XY). His 7-dehydrocholesterol level was extremely high (848 µg/ml, Ref: <0.1), androstenedione level was high (0.565 ng/ml, Ref: 0.08-0.5) and anti-Mullerian hormone level was low (4.2 ng/ml, Ref: 35.1-91.1). In renal scintigraphy, effective renal plasma flow was measured 80.6 ml/min for right kidney, but 24.1 ml/min for left kidney. He was taking malnutrition therapy. Infantile-type myelination of the brain was determined in cranial magnetic resonance imaging.en_US
dc.identifier.citationDoğan, K. H., Atabek, M. E., Demirci, S., Ünver Doğan, N., (2010). Smith-Lemli-Opitz Syndrome: Autopsy with New Morphological Findings. Journal of Pediatric Endocrinology & Metabolism, 23(11), 1105-1106.
dc.identifier.doi10.1515/jpem.2010.175en_US
dc.identifier.endpage1106en_US
dc.identifier.issn0334-018Xen_US
dc.identifier.issue11en_US
dc.identifier.pmid21284323en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage1105en_US
dc.identifier.urihttps://dx.doi.org/10.1515/jpem.2010.175
dc.identifier.urihttps://hdl.handle.net/20.500.12395/25263
dc.identifier.volume23en_US
dc.identifier.wosWOS:000285533000003en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorDoğan, K. H.
dc.institutionauthorAtabek, M. E.
dc.institutionauthorDemirci, S.
dc.institutionauthorÜnver Doğan, N.
dc.language.isoenen_US
dc.publisherFREUND PUBLISHING HOUSE LTDen_US
dc.relation.ispartofJOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISMen_US
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.titleSmith-Lemli-Opitz Syndrome: Autopsy with New Morphological Findingsen_US
dc.typeEditorialen_US

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