A case of holoprosencephaly with facial anomalies: 11q deletion syndrome
Abstract
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.
Keywords: Holoprosencephaly, Jacobsen Distal 11q Deletion Syndrome, craniofacial abnormalities
Özet
Holoprozensefali terimi, prozensefalonun farklı safhalardaki ayrılma ve farklılaşma yetersizlikleri ile karakterize bir grup hastalığı tanımlar. Holoprozensefaliye kraniyofasiyal ve ekstrakraniyal (polidaktili, renal displazi, omfalosel, hidrops vb.) anomaliler eşlik edebilir. Bu olgularda genellikle kromozomal anomaliler de vardır. Bu makalede belirgin kulak ve yüz anomalilerin eşlik ettiği nadir bir 11q mozaisizmli holoprozensefali olgusunun bulguları sunuldu.
Anahtar sözcükler: Holoprosansefali, Jacobsen Distal 11q Delesyon Sendromu, kafa yüz anormallikleri
Keywords
Kaynakça
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Ayrıntılar
Birincil Dil
İngilizce
Konular
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Bölüm
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Yayımlanma Tarihi
21 Haziran 2012
Gönderilme Tarihi
2 Mayıs 2011
Kabul Tarihi
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Yayımlandığı Sayı
Yıl 2012 Cilt: 34 Sayı: 2