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)
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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
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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
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Kayserili H, Uz E, Niessen C, et al. ALX4 dysfunction disrupts craniofacial and epidermal development. Human Molecular Genetics, 18(22):4357-4366, 2009
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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
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Allam KA, Wan DC, Kawamoto HK, et al. The spectrum of median craniofacial dysplasia. Plastic & Reconstructive Surgery, 127(2):812-821, 2011
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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