Meckel-Gruber syndrome: Report of two cases

Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia, cysts, and polydactyly. It is a ra...

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Detalles Bibliográficos
Autores principales: Panduranga, C, Kangle, Ranjit, Badami, Rajshree, Patil, Prakash V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3271618/
https://www.ncbi.nlm.nih.gov/pubmed/22346195
http://dx.doi.org/10.4103/0976-3147.91943
Descripción
Sumario:Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia, cysts, and polydactyly. It is a rare syndrome with highest incidence in Gujarati Indians and Finnish population. We report two such cases of MKS in non-Gujarati Indian which were diagnosed by neonatal autopsy.

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