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