منابع مشابه
Meckel 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.
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 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...
متن کاملA 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 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...
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ژورنال
عنوان ژورنال: IOSR Journal of Dental and Medical Sciences
سال: 2017
ISSN: 2279-0861,2279-0853
DOI: 10.9790/0853-1606082022