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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...

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Detalles Bibliográficos
Autores principales: Alam, Areej, Adhi, Mehreen, Bano, Raffat, Zubair, Aisha, Mushtaq, Ammara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publicaitons 2013
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
Descripción
Sumario: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 weeks of gestation of her sixth pregnancy. A transabdominal anomaly ultrasound performed for her current pregnancy at 18 weeks of gestation showed features consistent with MKS. The termination of pregnancy was declined and a live newborn female was delivered via an emergency caeserean section at 34 weeks of gestation due to previous history of lower segment caesarean section (LSCS) & leaking. Physical examination of the neonate confirmed the features of MKS. The neonate died within 4-5 hours of birth. This case represented a second trimester diagnosis of a recurrent case of MKS in a non-consanguineous marriage.