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Miller sendromu

Genée-Wiedemann sendromu

Postaxial acrofacial dysostosis

Kalıtsal - AR

1. ve 2. brankiyal yarık gelişim kusuru

Akrofasiyal disostozis bulguları

Göz kapakları aşağı çekik

Kapak konjunktivası dış ortamda (ektropiyon)

Kapaklarda koloboma

Kulaklar çanak biçiminde

Orta kulak anomalileri

İşitme sorunları

Yüz hipoplazisi

Filtrum uzun

Mikrognati

Dudak yarıkları

Damak yarıkları

Konik dişler

Süpernümerer meme uçları

Süpernümerer vertebra

Ekstremite anomalileri

5. parmakların eksikliği

Sindaktili

Ekstremite anomalileri

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• Vigneron J, Stricker M, Vert P, et al. Postaxial acrofacial dysostosis (Miller) syndrome: a new case. American Journal of Medical Genetics, 28: 636-638, 1991

• Neumann L, Pelz J, Kunze J. A new observation of two cases of acrofacial dysostosis type Genée-Wiedemann in a family -remarks on the mode of inheritance: report on two sibs. American Journal of Medical Genetics, 64(4):556-562, 1996

• Rainger J, Bengani H, Campbell L, et al. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. Human Molecular Genetics, 21(18):3969-3983, 2012

• Trainor PA, Andrews BT. Facial dysostoses: Etiology, pathogenesis and management. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 163C(4):283-294, 2013

• Ahmed MK, Ye X, Taub PJ. Review of the genetic basis of jaw malformations. Journal of Pediatric Genetics, 5(4):209-219, 2016