A Rare Case Report of Meckel-Gruber Syndrome (MGS)
نویسندگان
چکیده
منابع مشابه
A Rare Occurrence of Ambiguous Genitalia in Meckel-Gruber Syndrome (MGS): A Case Report
Background: Meckel-Gruber Syndrome (MGS) is a rare autosomal recessive congenital syndrome with triad of encephalocele, polydactyly, and polycystic kidneys. The worldwide incidence of the MGS is 1 in 1.3-1 in 140,000 live births. The highest incidence of 1 per 1,300 live births (carrier rate of 1 in 18) was reported in Gujarati Indians. MGS is caused by mutation in the...
متن کاملA rare case of Meckel-Gruber syndrome.
Meckel-Gruber syndrome (MKS) is a lethal, autosomal recessive transmitted anomaly, characterized by the ultrasound triad: occipital meningoencephalocele, bilateral polycystic kidney, postaxial polydactyly. The incidence is between 1÷13 250 and 1÷140 000 live births, being a rare anomaly. We report a MKS case of feminine gender diagnosed on two ultrasound findings (bilateral polycystic kidney, o...
متن کاملMeckel Gruber Syndrome--a case report.
Meckel Gruber Syndrome is a rare syndrome inherited as Mendelian autosomal recessive condition. The affected infant usually has a large occipital encephalocoele associated with renal cysts and sometimes polydactyly. The prognosis is poor. The affected child is still born or dies early in infancy. If diagnosis is done by prenatal ultrasound examination termination of pregnancy can be done.
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, ...
متن کاملMeckel-Gruber Syndrome Associated with CNS Malformations – A Case Report
Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterised by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. But clinically unsuspected or atypical features may be discovered at autopsy or pathological study. One such rare case, diagnosed by ultrasound scan at 21weeks of gestation was terminated and present...
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ژورنال
عنوان ژورنال: Clinical Radiology & Imaging Journal
سال: 2020
ISSN: 2640-2343
DOI: 10.23880/crij-16000166