Author(s): Carmen Micu | Mihaela Mureşan | Bogdan Micu | Gabriela Zaharie | Ana-Nadia Schmidt | Nicolae Miu
Journal: Human & Veterinary Medicine
ISSN 2066-7655
Volume: 5;
Issue: 1;
Start page: 24;
Date: 2013;
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Keywords: renoureteral malformations | plurimalformative syndrome | ontogeny
ABSTRACT
Introduction: Renal malformations may be part of chromosomal or sporadic syndromes (non-syndromic). This is an important causeof perinatal mortality and morbidity. Material and method: This is a retrospective study conducted on a total of 3 cases of dead fetuses and newbornsautopsied in the Anatomical Pathology Laboratory of Cluj County Emergency Hospital. Both macroscopic and microscopic studies of thekidney have been conducted in all renal malformations detected. Results: Diagnosed renal malformations have been related to plurimalformativesyndromes in three cases: one case of Charge syndrome, one case of Meckel-Gruber syndrome and one suspected case of Kallmann syndrome.Conclusions: Given the increased risk of recurrence of renal anomalies and of syndromes associated with renal anomalies, as well as the highincidence of undiagnosed syndromes after standard antenatal and perinatal examination, attention must be drawn on the importance of neonatalautopsy in order to provide further genetic counseling.
Journal: Human & Veterinary Medicine
ISSN 2066-7655
Volume: 5;
Issue: 1;
Start page: 24;
Date: 2013;
VIEW PDF
DOWNLOAD PDF Original pageKeywords: renoureteral malformations | plurimalformative syndrome | ontogeny
ABSTRACT
Introduction: Renal malformations may be part of chromosomal or sporadic syndromes (non-syndromic). This is an important causeof perinatal mortality and morbidity. Material and method: This is a retrospective study conducted on a total of 3 cases of dead fetuses and newbornsautopsied in the Anatomical Pathology Laboratory of Cluj County Emergency Hospital. Both macroscopic and microscopic studies of thekidney have been conducted in all renal malformations detected. Results: Diagnosed renal malformations have been related to plurimalformativesyndromes in three cases: one case of Charge syndrome, one case of Meckel-Gruber syndrome and one suspected case of Kallmann syndrome.Conclusions: Given the increased risk of recurrence of renal anomalies and of syndromes associated with renal anomalies, as well as the highincidence of undiagnosed syndromes after standard antenatal and perinatal examination, attention must be drawn on the importance of neonatalautopsy in order to provide further genetic counseling.
