Meckel-Gruber Sendromu: Ensefalosel ve Polidaktili Birlikteliği

Abstract

Meckel-Gruber sendromu; oksipital ensefalosel, polidaktili ve renal anomalilerin birlikteliği ile karakterize nadir görülen otozomal resesif bir hastalıktır. Solunum sıkıntısı nedeniyle başvuran dokuz aylık erkek hastada polidaktili ve oksipital ensefaloselinin eşlik etmesi nedeni ile Meckel-Gruber sendromu tanısı aldı. Meckel-Gruber sendromu polidaktiliye, oksipital ensefalosel ve böbrek displazisinin eşlik etmesi ile diğer polidaktili sendromlarından ayrılır. Bu yazıda Meckel-Gruber sendromunun, oksipital ensefalosel ve renal anomalilerin tespiti ile erken dönemde tanıalabilen bir polidaktili sendromu olduğu vurgulanmıştır.

Keywords

• Meckel-Gruber sendromu, polidaktili, ensefalosel

MECKEL-GRUBER SYNDROME: POLYDACTYLY ASSOCIATED WITH ENCEPHALOCELE

Abstract

Meckel-Gruber syndrome is an autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and renal anomalies. A nine-month-old infant presented with respiratory distress associated with polydactyly, occipital encephalocele and renal dysplasia was diagnosed as Meckel-Gruber syndrome. This syndrome can be differentiated from the other polydactyly syndromes by the presence of occipital encephalocele and renal dysplasia. In this report; we stressed that Meckel-Gruber syndrome is a polydactyly syndrome which could be diagnosed early by establishing occipital encephalocele and renal anomalies

Keywords

• Meckel-Gruber syndrome, polydactyly, encephalocele

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