Murat BAYKARA, Bülent PETİK, Mehmet Uğur YILMAZ

A case of holoprosencephaly with facial anomalies: 11q deletion syndrome

Holoprozensefali terimi, prozensefalonun farklı safhalardaki ayrılma ve farklılaşma yetersizlikleriile karakterize bir grup hastalığı tanımlar. Holoprozensefaliye kraniyofasiyal ve ekstrakraniyal(polidaktili, renal displazi, omfalosel, hidrops vb.) anomaliler eşlik edebilir. Bu olgulardagenellikle kromozomal anomaliler de vardır. Bu makalede belirgin kulak ve yüz anomalilerin eşlikettiği nadir bir 11q mozaisizmli holoprozensefali olgusunun bulguları sunuldu.

Fasiyal anomalilerin eşlik ettiği bir holop rozensef ali olgusu: 11q delesyon sendromu

The term holoprosencephaly defines a group of diseases characterized by separation anddifferentiation deficiencies of prosencephalon at different stages of development. Craniofacial andextracranial anomalies (polydactly, renal dysplasia, omphalocel, hydrops etc.) may accompanyholoprosencephaly. Chromosomal abnormalities are also present in most of these cases. In thisreport a rare 11q mosaicism holoprosencephaly case with prominent ear and face anomalies ispresented.

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