Smith-Lemli-Opitz syndrome. Abnormal cholesterol synthesis

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dc.contributor.authorDíaz Jiménez, Edward
dc.contributor.authorEstrada Vilvao, Erick
dc.date2017-06-01
dc.descriptionSmith - Lemli - Opitz (SLO) is a syndrome due to deficiency of 7 - dehydrocholesterol reductase (DHCR7). DHCR7 primarily catalyzes the reduction of 7 - dehydrocholesterol (7DHC) cholesterol. In SLO, this results in lowering cholesterol and increase levels 7DHC, both during embryonic development and after birth. Malformations that are in SLO may result from the reduction of cholesterol, increased 7DHC or a combination of these two factors. Target: Describe the clinical and diagnostic aspects of a patient with SLO and do an updated review of the topic. Case report: The case report is based on data collected in the patient’s medical history. Highlighting the presence of low weight and height. Microcephaly with dysmorphic facial and forehead, hypotelorism, bilateral epicanthus, long philtrum, mouth corners down arched palate and micrognathia. Also micropenis, hypospadias and bilateral cryptorchidism, bilateral clinodactyly of 5th finger, brachydactyly with proximally placed thumbs in hands and bilateral partial syndactyly between 2nd and 3rd finger of the feet. Generalized hypotonia and developmental delay. Conclusion: In the presence of a patient with characteristic phenotypic features of this syndrome and low serum colesterol levels should be suspected in the SLOs as a diagnostic possibility.en-US
dc.descriptionSmith-Lemli-Opitz (SLO) es un síndrome debido a la deficiencia de la 7- dehidrocolesterol reductasa (DHCR7). DHCR7 cataliza principalmente la reducción del 7-dehidrocolesterol (7DHC) en colesterol. En SLO, esto se traduce en la disminución del colesterol y el aumento de los niveles de 7DHC, tanto durante el desarrollo embrionario y después del nacimiento. Las malformaciones que se encuentran en SLO puede ser consecuencia de la disminución del colesterol, aumento de 7DHC o una combinación de estos dos factores. Objetivo: Describir los aspectos clínicos y diagnósticos de un paciente con SLO y hacer una revisión actualizada del tema. Caso clínico: El reporte de caso se basa en datos recopilados en la historia clínica del paciente. Destacándose la presencia de bajo peso y talla. Microcefalia con dismorfias faciales como frente estrecha, hipotelorismo, epicanto bilateral, filtrum largo, comisuras bucales hacia abajo, paladar ojival y micrognatia. También micropene, hipospadia y criptorquidia bilateral, clinodactilia de 5to dedo bilateral, braquidactilia con pulgares de implantación proximal en manos y sindactilia parcial bilateral entre 2do y 3er dedo de los pies. Hipotonía generalizada y retraso del desarrollo psicomotor. Conclusión: Ante la presencia de un paciente con rasgos fenotípicos característicos de este síndrome y con niveles bajos del colesterol sérico, se debe sospechar en la posibilidad de SLO como diagnóstico.es-ES
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dc.identifierhttps://revistas.unilibre.edu.co/index.php/rcslibre/article/view/1419
dc.identifier10.18041/1900-7841/rcslibre.2017v12n1.1419
dc.identifier.urihttp://hdl.handle.net/10901/15015
dc.languagespa
dc.language.isospaspa
dc.publisherUniversidad Librees-ES
dc.relationhttps://revistas.unilibre.edu.co/index.php/rcslibre/article/view/1419/1054
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dc.relation.ispartofjournalRevistas - Ciencias de la Saludspa
dc.rights.licenseAtribución-NoComercial-SinDerivadas 2.5 Colombia*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/2.5/co/*
dc.sourceRevista Colombiana Salud Libre; Vol. 12 Núm. 1 (2017): Revista Colombiana Salud Libre; 60-65es-ES
dc.source2539-3340
dc.source1900-7841
dc.subject.proposalColesterolspa
dc.subject.proposalEmbriologíaspa
dc.titleSmith-Lemli-Opitz syndrome. Abnormal cholesterol synthesisen-US
dc.titleSíndrome de Smith-Lemli-Opitz. Anomalía en la síntesis de colesteroles-ES
dc.type.coarhttp://purl.org/coar/resource_type/c_6501
dc.type.coarversionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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