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Meckel gruber syndrome: second trimester diagnosis of a case in a non-consanguineous marriage
Pakistan Journal of Medical Sciences. 2013; 29 (1): 234-236
in English | IMEMR | ID: emr-127077
ABSTRACT
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] and 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
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Index: IMEMR (Eastern Mediterranean) Main subject: Pregnancy Trimester, Second / Consanguinity / Encephalocele / Polycystic Kidney Diseases Type of study: Case report Limits: Female / Humans Language: English Journal: Pak. J. Med. Sci. Year: 2013

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Index: IMEMR (Eastern Mediterranean) Main subject: Pregnancy Trimester, Second / Consanguinity / Encephalocele / Polycystic Kidney Diseases Type of study: Case report Limits: Female / Humans Language: English Journal: Pak. J. Med. Sci. Year: 2013