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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