Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas

Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal...

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Detalles Bibliográficos
Autores principales: Demirdöven, Mehmet, Yazgan, Hamza, Korkmaz, Mevlit, Gebeşçe, Arzu, Tonbul, Alparslan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4137740/
https://www.ncbi.nlm.nih.gov/pubmed/25165593
http://dx.doi.org/10.1155/2014/623926
Descripción
Sumario:Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies. This report presents a typical case of Smith-Lemli-Opitz syndrome with annular pancreas which is an unreported gastrointestinal abnormality.

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