Clinical diagnosis of the Smith-Lemli-Opitz type I syndrome. Case Report

Authors

  • Noel Taboada Lugo Centro Provincial de Genética Médica, Villa Clara
  • Caridad María Valle Sánchez Centro Provincial de Genética Médica, Villa Clara
  • Clara León Mollineda Centro Provincial de Genética Médica, Villa Clara

Keywords:

Smith-Lemli-Opitz Syndrome, genetics, diagnosis

Abstract

With a low incidence, the relatively recent finding that the Smith-Lemli-Opitz syndrome is caused by a disorder of cholesterol metabolism, increases its interest as an expression of a new path for better knowledge of monogenic syndromes with multiple malformations. It presents the case of a six month old infant who fullfil the criteria that allow the clinical diagnosis of this syndrome. The detailed dysmorphological description of the case is made and it differs from the Smith-Lemli-Opitz type II syndrome. At present there is no treatment with proven effectiveness for patients with this syndrome; the supplementary administration of cholesterol in the diet constitutes a logical therapeutic perspective, as this should potentially increase their plasma and tissue levels.

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Author Biographies

Noel Taboada Lugo, Centro Provincial de Genética Médica, Villa Clara

Especialista de I y II Grado en Genética Clínica. Profesor Auxiliar de la Universidad de Ciencias Médicas de Villa Clara.

Caridad María Valle Sánchez, Centro Provincial de Genética Médica, Villa Clara

Licenciada en Enfermería. Máster en Asesoramiento Genético.

Clara León Mollineda, Centro Provincial de Genética Médica, Villa Clara

Especialista de I Grado en Medicina General Integral. Máster en Asesoramiento Genético.

References

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Published

2018-03-31

How to Cite

1.
Taboada Lugo N, Valle Sánchez CM, León Mollineda C. Clinical diagnosis of the Smith-Lemli-Opitz type I syndrome. Case Report. Acta Méd Centro [Internet]. 2018 Mar. 31 [cited 2025 Jun. 27];12(2):192-7. Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/777

Issue

Vol. 12 No. 2 (2018): April-June

Section

Case Reports

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