Ansefalosel dudak damak yarığı böbrek kisti hepatik fibroz mikropenis elde ulnar deviasyon ve pes ekinovarusu olan bir yenidoğanda Meckel Gruber sendromu tanısı kondu Meckel Gruber sendromu ansefalosel polikistik böbrek ve polidaktili triadı ile karakterize otozomal resesif geçişli bir sendromdur Ancak hastamızda olduğu gibi triadın iki bulgusu ve eşlik eden diğer anomalileri içeren Meckel Gruber sendromlu olgular tanımlanmaktadır Anahtar kelimeler: Meckel Gruber Sendromu Dandy Walker Malformasyonu Mikropenis Ansefalesol Polikistik Böbrek
A newborn with encephalocele cleft lip and palate polycystic kidney hepatic fibrozis micropenis ulnar deviation and pes equinovarus was diagnosed as Meckel Gruber syndrome Meckel Gruber syndrome is an autosomal recessive disease presenting with encephalocele polycystic kidney and polydactily Cases demonstrating the two findings of Meckel Gruber syndrome are presented in the literature Key words: Meckel Gruber Syndrome Dandy Walker Malformation Micropenis Encephalocele Polycystic Kidney
Primary Language | Turkish |
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Journal Section | Case Report |
Authors | |
Publication Date | June 1, 1997 |
Published in Issue | Year 1997 Volume: 32 Issue: 2 |