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Gazzetta Medica Italiana Archivio per le Scienze Mediche 2017 July-August;176(7-8):424-5

DOI: 10.23736/S0393-3660.16.03395-7

Copyright © 2016 EDIZIONI MINERVA MEDICA

lingua: Inglese

Meckel Gruber Syndrome

Senka SABOLOVIĆ RUDMAN , Ivka DJAKOVIĆ, Vesna KOŠEC

Department of Obstetrics and Gynecology, University Hospital Center “Sestre milosrdnice”, Zagreb, Croatia


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Meckel Gruber Syndrome is an autosomal recessive syndrome characterized by a wide variety of systemic malformations. It is a rare syndrome, the worldwide incidence varies from 1 in 13250 to 1 in 140000 live births. There is great diversity of malformations in this syndrome and it is almost always lethal. We present a case of a patient that had two inducted abortions for Meckel Gruber syndrome. The diagnosis was confirmed pathohystologicaly. She also had two normal term pregnancies. Adequate antenatal care results in early diagnosis of Meckel Gruber syndrome and prompt termination of pregnancy is required.


KEY WORDS: Meckel syndrome type 1 - Ultrasonography - Encephalocele - Polycystic kidney diseases - Polydactyly

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