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

Cilt: 34 Sayı: 2 21 Haziran 2012
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A case of holoprosencephaly with facial anomalies: 11q deletion syndrome

Öz

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

Anahtar Kelimeler

Kaynakça

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  6. Helmuth RA, Weaver DD, Wills ER. Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism. Am J Med Genet 1989; 32: 178-81.
  7. Osborn AG. Disorders of diverticulation and cleavage, sulcation and cellular migration. Diagnostic Neuroradiology. First ed: Chicago: Mosby, 1994; 1: 37-9.
  8. Şener RN, Savaş R. Serebral destrüktif lezyonlar ve indüksiyon bozuklukları. In: Şener RN (Ed). Pediatrik nöroradyoloji. First ed. Ankara: TRD 1999; pp: 9-18.

Ayrıntılar

Birincil Dil

İngilizce

Konular

-

Bölüm

-

Yazarlar

Bülent Petik

Mehmet Yılmaz

Yayımlanma Tarihi

21 Haziran 2012

Gönderilme Tarihi

2 Mayıs 2011

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 2012 Cilt: 34 Sayı: 2

IZ

https://izlik.org/JA74KW62BY

Kaynak Göster

RIS / Bibtex
APA
Petik, B., Baykara, M., & Yılmaz, M. (2012). A case of holoprosencephaly with facial anomalies: 11q deletion syndrome. Cumhuriyet Medical Journal, 34(2), 206-209. https://izlik.org/JA74KW62BY
AMA
1.Petik B, Baykara M, Yılmaz M. A case of holoprosencephaly with facial anomalies: 11q deletion syndrome. CMJ. 2012;34(2):206-209. https://izlik.org/JA74KW62BY
Chicago
Petik, Bülent, Murat Baykara, ve Mehmet Yılmaz. 2012. “A case of holoprosencephaly with facial anomalies: 11q deletion syndrome”. Cumhuriyet Medical Journal 34 (2): 206-9. https://izlik.org/JA74KW62BY.
EndNote
Petik B, Baykara M, Yılmaz M (01 Haziran 2012) A case of holoprosencephaly with facial anomalies: 11q deletion syndrome. Cumhuriyet Medical Journal 34 2 206–209.
IEEE
[1]B. Petik, M. Baykara, ve M. Yılmaz, “A case of holoprosencephaly with facial anomalies: 11q deletion syndrome”, CMJ, c. 34, sy 2, ss. 206–209, Haz. 2012, [çevrimiçi]. Erişim adresi: https://izlik.org/JA74KW62BY
ISNAD
Petik, Bülent - Baykara, Murat - Yılmaz, Mehmet. “A case of holoprosencephaly with facial anomalies: 11q deletion syndrome”. Cumhuriyet Medical Journal 34/2 (01 Haziran 2012): 206-209. https://izlik.org/JA74KW62BY.
JAMA
1.Petik B, Baykara M, Yılmaz M. A case of holoprosencephaly with facial anomalies: 11q deletion syndrome. CMJ. 2012;34:206–209.
MLA
Petik, Bülent, vd. “A case of holoprosencephaly with facial anomalies: 11q deletion syndrome”. Cumhuriyet Medical Journal, c. 34, sy 2, Haziran 2012, ss. 206-9, https://izlik.org/JA74KW62BY.
Vancouver
1.Bülent Petik, Murat Baykara, Mehmet Yılmaz. A case of holoprosencephaly with facial anomalies: 11q deletion syndrome. CMJ [Internet]. 01 Haziran 2012;34(2):206-9. Erişim adresi: https://izlik.org/JA74KW62BY