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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Copyright and license

How to cite

1.
Bilgin H, Pirgon Ö, Odabaş D. MECKEL-GRUBER SYNDROME: POLYDACTYLY ASSOCIATED WITH ENCEPHALOCELE. Turk J Pediatr Dis [Internet]. 2011 Dec. 1 [cited 2025 May 25];5(1):40-3. Available from: https://turkjpediatrdis.org/article/view/130