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2001, Volume 17, Number 3-4, Page(s) 075-077
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MECKEL-GRUBER SYNDROME: THE EVALUATION OF FOUR AUTOPSY CASES
Derya GÜMÜRDÜLÜ, Melek ERGİN, Aysun UĞUZ, Filiz BOLAT, Nurdan TUNALI
Çukurova Üniversitesi Tıp Fakültesi Patoloji Anabilim Dalı, Adana
Abstract
Meckel-Gruber syndrome (MGS), is a autosomal recessive disorder characterized by the triad of occipital encephalocele, polycystic kidneys and polydactyly. In this syndrome, hepatic fibrosis, various anomalies of central nervous system such as Dandy-Walker malformation and genitourinary anomalies have been described in addition to the classic findings. In this study, four autopsy cases which were diagnosed as MGS at Çukurova University Faculty of Medicine, Pathology Department were examined. Two cases were female and two cases were male. Gestational age of these cases were between 17 and 29 weeks. There were polycystic kidneys, polydactyly and ductal plate malformation in all cases, occipital encephalocele in two cases, Dandy-Walker malformation in one case and Arnold-Chiari malformation associated with encephalomeningomyelocele and congenital heart defects in one case. The other malformations of central nervous system, gastrointestinal and genitourinary and skeletal system except the triad of MGS were discussed associated with our autopsy findings.
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