A

 

Ablepharon-macrostomia sendromu

 

Kalıtsal - AD

Zigomatik ark agenezi

Hipertelorizm

Göz kapakları agenezi

Göz kapakları (varsa)  yapışıklığı

Kaş agenezi

Kirpik agenezi

Rudimanter kulak kepçesi

Makrostomi

Dudak anomalileri

Dişeti agenezi

Meme uçları agenezi

Genital organ anomalileri

Parmak anomalileri

Deri kaba-kuru

Bkz Barber-Say sendromu

 

 

  • Rohena L, Kuehn D, Marchegiani S, Higginson JD. Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome. American Journal of Medical Genetics, 155A: 850-854, 2011

  • Kallish S, McDonald-McGinn DM, van Haelst MM, et al. Ablepharon-macrostomia syndrome - an extension of the phenotype. American Journal of Medical Genetics, 155A: 3060-3062, 2011

  • Marchegiani S, Davis T, Tessadori F, et al. Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes. American Journal of Human Genetics, 97: 99-110, 2015