Author/Authors :
Petik, Bülent Adıyaman Üniversitesi - Teaching and Research Hospital - Radyoloji Anabilim Dalı, Türkey , Baykara, Murat Elazığ Teaching and Research Hospital - Department of Radiology, Turkey , Yılmaz, Mehmet Uğur Merzifon Government Hospital - Department of Radiology, Turkey
Title Of Article :
A case of holoprosencephaly with facial anomalies: 11q deletion syndrome
Abstract :
The term holoprosencephaly defines a group of diseases characterized by separation and differentiation deficiencies of prosencephalon at different stages of development. Craniofacial and extracranial anomalies (polydactly, renal dysplasia, omphalocel, hydrops etc.) may accompany holoprosencephaly. Chromosomal abnormalities are also present in most of these cases. In this report a rare 11q mosaicism holoprosencephaly case with prominent ear and face anomalies is presented
NaturalLanguageKeyword :
Holoprosencephaly , Jacobsen Distal 11q Deletion Syndrome , craniofacial abnormalities
JournalTitle :
Cumhuriyet Medical Journal
