Meckel-Gruber Syndrome: A Case Report

Yıl 2011, Cilt: 18 Sayı: 4, 272 - 274, 01.08.2011

Yılmaz Tabel Habip Almiş Ahmet Taner Elmas Ahmet Karadağ

Öz

Meckel-Gruber syndrome is characterized by the triad: occipital meningo-encephalocele, cystic displastic kidneys and postaxial polidactyly. Meckel-Gruber syndrome is a lethal and autosomal recessive condition. This syndrome seen rarely but have high risk of reccurence. In this report was presented a newborn with encephalosel and bilateral renal polycyst, absent polydactyly. In this case postnatal recognition requires genetic counseling of parents and obtaining early prenatal diagnosis in next pregnancy. Key words: Meckel-Gruber Syndrome; Polydactyly; Encephalocele; Polycystic Kidney.

Anahtar Kelimeler

Meckel-Gruber Syndrome; Polydactyly; Encephalocele; Polycystic Kidney.

Meckel-Gruber Sendromu: Olgu Sunumu

Öz

Meckel-Gruber sendromunun karakteristik triadı; oksipital meningo-ensefalosel, kistik displastik böbrekler ve postaksiyel polidaktilidir. Bu sendrom ölümcüldür ve otozomal resesif geçişlidir. Nadir görülmekle birlikte tekrarlama riski yüksektir. Burada polidaktili olmayan bilateral polikistik böbrek ve ensefalosel ile tanı koyduğumuz Meckel-Gruber sendromlu bir yenidoğan olgusunu; sonraki gebelikler için genetik danışmanlığın önemine ve erken prenatal tanısına vurgu yapmak üzere sunmaktayız. Anahtar kelimeler: Meckel-Gruber Sendromu; Polidaktili; Ensefalosel; Polikistik Böbrek.

Anahtar Kelimeler

Meckel-Gruber Sendromu; Polidaktili; Ensefalosel; Polikistik Böbrek.

Kaynakça

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