SYNDROME DE MECKEL GRUBER: A PROPOS DUN CAS RARE
نویسندگان
چکیده
Meckel-Gruber syndrome is a monogenic congenital disorder characterized by occipital encephalocele, polydactyly, and polycystic kidneys. This incompatible with life. We report case diagnosed on fetal ultrasound at gestational age of 22 SA 6 days, presenting the clinical triad syndrome. A medical termination pregnancy was indicated. From this rare case, through review literature, we will discuss different clinical, prognostic aspects pathology.
منابع مشابه
Syndrome de Meckel Gruber: à propos d’un cas rare
Abstract Le syndrome de Meckel Gruber est un syndrome poly malformatif rare, de transmission autosomique récessive, défini par d'encéphalocèle occipital, polydactylie et dysplasie kystique rénale. L'échographie constitue, à l'heure actuelle, le meilleur moyen de dépistage anténatal de cette poly malformation létale et sa confirmation se fait par l'étude du caryotype. Nous rapportons un cas de s...
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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 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 (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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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...
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ژورنال
عنوان ژورنال: International journal of advanced research
سال: 2021
ISSN: ['2707-7802', '2707-7810']
DOI: https://doi.org/10.21474/ijar01/13023