First-Trimester Diagnosis of Recurrent Meckel-Gruber Syndrome
نویسندگان
چکیده
منابع مشابه
First trimester diagnosis of Meckel Gruber syndrome in pregnancy.
Meckel Gruber syndrome was originally described by Meckel in 1822, later by Gruber and more recently by Opitz and Howe.1 It is a lethal autosomal recessive disorder characterized by the triad of encephalocele, polycystic kidneys and polydactyly. Prenatal ultrasonographic diagnosis of this condition has been reported extensively during the second and third trimeter. In the low risk population th...
متن کاملThe Case of Recurrent Lethal Fetal Syndrome: Meckel–Gruber Syndrome
Meckel–Gruber syndrome (MGS), a rare lethal syndrome, is characterized phenotypically by polycystic kidneys, occipital encephalocele, and postaxial polydactyly. This entity with 100% fatality has autosomal recessive transmission with multiple gene loci. Mutation analysis is the confirmatory test to label a case as MGS. However, two of the three above-mentioned anomalies are sufficient to arrive...
متن کاملMeckel Gruber syndrome (dysencephalia splanchnocystica).
Meckel-Gruber syndrome is a rare lethal autosomal recessive condition which was first described by Johann Friedrich Meckel in 1822 and GB Gruber in 1934. More than 200 cases have been reported worldwide with an incidence ranging from 1:13,250 to 1:140,000 live births. A 21-year-old female with G3 A2 L0, presented with twin pregnancy with history of previous two anencephalic pregnancies. The pre...
متن کاملMeckel 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 weeks of gestation of her sixth pregnancy. A transabdominal anomaly ultrasound performed for her ...
متن کاملA rare case of Meckel-Gruber syndrome: Antenatal diagnosis
Meckel-Gruber syndrome (MGS) is a lethal autosomal recessive condition which is rarely reported. Polycystic kidneys, polydactyly, occipital encephalocele are the diagnostic triad for MGS. 24 year old G2P1L1 having a consanguineous marriage at 20 weeks of gestation on detailed level II anomaly scan showed bilateral enlarged polycystic kidneys with increased echogenicity, absent urinary bladder, ...
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ژورنال
عنوان ژورنال: Gynecology Obstetrics & Reproductive Medicine
سال: 2016
ISSN: 2602-4918,1300-4751
DOI: 10.21613/gorm.2016.113