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Frontonazal displazi

Kalıtsal - AR

Frontonazal malformasyon

Cranium bifidum occultum: Frontal kemikte ve yüz kemik­lerinde orta çizgi yarığı (birleşme kusuru)

Nazofrontal ensefalosel

Frontal sinüslerde hipoplazi

Aşırı hipertelorizm

Mikroftalmi

Ptozis

Katarakt

Epibulbar dermoidler

Paranazal sinüslerde hipoplazisi

Burun ucu yarığı

Burun kökünde aşırı yayvanlık

Santral (orta çizgi) yarıklar: burun, üst dudak, damak

Maksilla hipoplazisi (mikrognati)

Corpus callosum anomalileri

Özel tipler:

Shanske sendromu (ek olarak corpus callosum agenezi, tibia hipoplazisi, dört adet ayak başparmağı)

Golabi-Gonzales-Edwards sendromu (kulak anomalileri)

 

  • Giffoni SD, Gonçalves VM, Zanardi VA, Lopes VL. Angular analysis of corpus callosum in 18 patients with frontonasal dysplasia. Arquivos de Neuro-Psiquiatria, 62(2A):195-198, 2004

  • Wu E, Vargevik K, Slavotinek AM. Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. American Journal of Medical Genetics A, 143A(24):3069-3078, 2007

  • Kayserili H, Uz E, Niessen C, et al. ALX4 dysfunction disrupts craniofacial and epidermal development. Human Molecular Genetics, 18(22):4357-4366, 2009

  • Uz E, Alanay Y, Aktas D, et al. Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. American Journal of Human Genetics, 86(5):789-796, 2010

  • Allam KA, Wan DC, Kawamoto HK, et al. The spectrum of median craniofacial dysplasia. Plastic & Reconstructive Surgery, 127(2):812-821, 2011

  • Kayserili H, Altunoglu U, Ozgur H, et al. Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations. American Journal of Medical Genetics A, 158A(1):236-244, 2012

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