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[Smith-Lemli-Opitz syndrome].

Fanny Pelluard-Nehmé1, Dominique Carles, Eve Marie Alberti

  • 1Service d'Anatomie Pathologique, Groupe Hospitalier Pellegrin, Bordeaux.

Annales De Pathologie
|December 6, 2005
PubMed
Summary

Smith-Lemli-Opitz (SLO) syndrome, a genetic disorder caused by 7-dehydrocholesterol reductase deficiency, presents with severe malformations. This case highlights a fetus with intrauterine growth retardation and multiple anomalies, confirming SLO syndrome via pathological and biochemical analysis.

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Area of Science:

  • Biochemistry
  • Genetics
  • Developmental Biology

Background:

  • Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder.
  • It results from a deficiency in 7-dehydrocholesterol reductase, impacting cholesterol biosynthesis.
  • Key features include facial anomalies, syndactyly, polydactyly, and ambiguous genitalia.

Observation:

  • A fetal case presented with intrauterine growth retardation.
  • Prenatal ultrasound detected multiple malformations, including genital anomalies, cardiac defects, renal aplasia, and facial anomalies.
  • Medical abortion was performed at 24 weeks gestation.

Findings:

  • Pathologic examination and biochemical analysis confirmed SLO syndrome.
  • The case illustrates the severe phenotypic spectrum of this cholesterol biosynthesis disorder.

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Implications:

  • This report aids in understanding SLO syndrome's prenatal diagnosis and presentation.
  • It underscores the importance of integrating imaging, pathology, and biochemical data for accurate diagnosis.
  • Further research can improve prenatal detection and management strategies for SLO syndrome.