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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Syndrome de Smith-Lemli-Opitz

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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  • Fanny Pelluard-Nehmé
  • Dominique Carles
  • Eve Marie Alberti
  • Robert Saura
  • Christian Wong
  • Claude Wolf
Vis graf over relationer
SLO syndrome is an autosomal recessive condition with multiple malformations. This syndrome is ascribed to deficiency of 7 dehydrocholesterol reductase, an enzyme in the cholesterol biosynthetic pathway. The characteristics of this syndrome are facial anomalies, syndactyly of the second and third toe, postaxial polydactyly and genital anomalies with sexual ambiguity. We report a fetal case with intrauterine growth retardation, genital anomalies, multiple malformations with cardiac anomalies, renal aplasia and facial anomalies detected by prenatal ultrasound. Medical abortion was induced at 24 weeks gestation. The diagnosis was considered after complete pathologic examination and biochemical analysis.
Bidragets oversatte titelSmith-Lemli-Opitz syndrome
OriginalsprogFransk
TidsskriftAnnales de Pathologie
Vol/bind25
Udgave nummer4
Sider (fra-til)318-21
Antal sider4
ISSN0242-6498
StatusUdgivet - 2005

    Forskningsområder

  • Abortion, Induced, Adult, Face, Female, Genotype, Humans, Male, Pregnancy, Sex Determination Processes, Smith-Lemli-Opitz Syndrome

ID: 34801938