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Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage
Meckel-Gruber Syndrome (MKS) is a rare, autosomal recessive genetic disorder, incompatible with life. It is characterized by enlarged polycystic kidneys and post axial polydactyly. Foetal or neonatal death is caused by pulmonary hypoplasia. We report a case of a 35 year old woman who presented at 7...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Professional Medical Publicaitons
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809165/ https://www.ncbi.nlm.nih.gov/pubmed/24353549 http://dx.doi.org/10.12669/pjms.291.2930 |