Meckel gruber syndrome: second trimester diagnosis of a case in a non-consanguineous marriage
Pakistan Journal of Medical Sciences. 2013; 29 (1): 234-236
em Inglês
| 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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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Segundo Trimestre da Gravidez
/
Consanguinidade
/
Encefalocele
/
Doenças Renais Policísticas
Tipo de estudo:
Relato de Casos
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Pak. J. Med. Sci.
Ano de publicação:
2013
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