Maksillofasiyal disostozis
Maxillofacial dysostosis
Kalıtsal -AD
Aşağı çekik gözler
Dış kulak anomalileri
Konuşmada gecikme ve dizartri
Maksilla hipoplazisi (mikrognati)
Prognatizm
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Escobar V, Eastman J, Weaver D, Melnick M. Maxillofacial dysostosis. Journal of Medical Genetics, 14:355-358, 1977
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Melnick M, Eastman JR. Autosomal dominant maxillofacial dysostosis. Birth Defects Original Article Series, XIII(3B):39-44, 1977
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Gorlin RJ, Cohen MM Jr, Hennekam RCM. Eds. Syndromes of the Head and Neck. 4th ed. Oxford University Press, New York, 2001
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Hedera P, Toriello HV, Petty EM. Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1. Journal of Medical Genetics, 39(7):484-488, 2002