Hipomandibular fasiyokraniyal disostoz

Hypomandibular faciocranial dysostosis

Kalıtsal - AR

Koronal suturalarda kraniyosinostoz

Orbita hipoplazisi

Optik sinir koloboması

Yüz orta bölüm hipoplazisi

Dudaklar iri

Altçene hipoplazisi

Ramus agenezi

Dişetlerinde malformasyon

Aglossi

 Atrial septum defekti

  • Neidich J A, Whitaker LA, Natowicz M, et al. Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities. American Journal of Medical Genetics, Suppl. 4: 161-166, 1988

  • Schimke RN, Claflin KS, Seguin JH, et al. Hypomandibular faciocranial dysostosis: report of an affected sib and follow-up. American Journal of Medical Genetics,  41: 102-104, 1991

  • Ludman MD, Vincer MJ, Cron C, et al. Hypomandibular faciocranial dysostosis: another case and review. American Journal of Medical Genetics, 47: 352-356, 1993

  • Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes with craniosynostosis: miscellaneous syndromes. Syndromes of the Head and Neck. 4th ed., Oxford Univ. Press, New York, 2001