Sánchez OA, Toledo LM, Orraca CM

Language: Spanish
References: 11
Page: 86-91
PDF size: 408.62 Kb.

ABSTRACT

Introduction: Smith-Lemli-Opitz Syndrome is the most frequent of the congenital errors of cholesterol metabolism. It is a rare disease of low prevalence, its early diagnosis is essential to guarantee the quality of life.
Case report: a 10-year old child living in Pinar del Rio province, attending Clinical Genetics Office was referred from the municipal service for presenting dysmorphic signs and delayed psychomotor development. He is diagnosed with Smith-Lemli-Opitz syndrome. Biochemical and molecular studies are described, as well as the follow-up protocol of the disease.
Conclusion: it is important to discern the Smith-Lemli-Opitz syndrome to set up an early diagnosis that leads to a better quality of life and to avoid the sequelae that this disease can provoke.

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