A rare case of Meckel-Gruber syndrome
Vol. 58 No. 3, 2017
ROMANIAN JOURNAL of MORPHOLOGY and EMBRYOLOGY
Daniela Veronica Chiriac, Lavinia Maria Hogea, Ana Cristina Bredicean, Robert Rednic, Laura Alexandra Nussbaum, Gheorghe Bogdan Hogea, Mirela Loredana Grigoras
Meckel-Gruber syndrome (MKS) is a lethal, autosomal recessive transmitted anomaly, characterized by the ultrasound triad: occipital meningoencephalocele, bilateral polycystic kidney, postaxial polydactyly. The incidence is between 1/13 250 and 1/140 000 live births, being a rare anomaly. We report a MKS case of feminine gender diagnosed on two ultrasound findings (bilateral polycystic kidney, occipital meningoencephalocele). This case highlights the presence of MKS in a young female without family history.
Corresponding author: Lavinia Maria Hogea, Assistant Professor, PhD; e-mail: laviniahogea@yahoo.com
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