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Maksillofasiyal disostozis (maxillofacial dysostosis)

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Aşağı çekik gözler

Dış kulak anomalileri

Konuşmada gecikme ve dizartri

Maksilla hipoplazisi (mikrognati)

Prognatizm

 

• Escobar V, Eastman J, Weaver D, Melnick M. Maxillofacial dysostosis. Journal of Medical Genetics, 14:355-358, 1977

• Melnick M, Eastman JR. Autosomal dominant maxillofacial dysostosis. Birth Defects Original Article Series, XIII(3B):39-44, 1977

• Gorlin RJ, Cohen MM Jr, Hennekam RCM. Eds. Syndromes of the Head and Neck. 4th ed. Oxford University Press, New York, 2001

• 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

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