M
Mikroftalmi sendromları
15 fenotip
Kalıtsal - AD/AR/XLD/XLR
Kranyumda deformasyon
Brakisefali
Alın geniş
Anoftalmi
Mikroftalmi
Kulak anomalileri
Yüz orta bölüm hipoplazisi
Yüz asimetrisi
Retrognati
Mikrognati
Mikroglossi
Çukur damak
Yarık damak
Uvula bifida
Dış genital organlarda gelişme geriliği
Uterus anomalisi
Böbreklerde hipoplazi
Adrenal bezlerde hipoplazi
Servikal vertebra anomalileri
Parmak anomalileri
Hipotoni
Serebellum hipoplazisi
Optik sistem agenezisi
Psikomotor gerilik
Hipopituitarizm
Hipotiroidizm
Bkz Fryns sendromu
Bkz MIDAS sendromu
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Morini F, Pacilli M, Spitz L. Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature (Letter). American Journal of Medical Genetics, 132A: 60-62, 2005
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Nolen LD, Amor D, Haywood A, et al. Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. American Journal of Medical Genetics, 140A: 1711-1718, 2006
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Bakrania P, Efthymiou M, Klein JC, et al. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and Hedgehog signaling pathways. American Journal of Human Genetics, 82: 304-319, 2008
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Reis LM, Tyler RC, Schilter KF, et al. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Human Genetics, 130: 495-504, 2011