M

 

Mikroftalmi sendromları

15 fenotip

Kalıtsal - AD/AR/XLD/XLR

Kranyumda deformasyon

Brakisefali

Alın geniş

Anoftalmi

Mikroftalmi

Kulak anomalileri

Yüz orta bölüm hipoplazisi

Yüz asimetrisi

Retrognati

Mikrognati

Mikroglossi

Çukur damak

Yarık damak

Uvula bifida

Dış genital organlarda gelişme geriliği

Uterus anomalisi

Böbreklerde hipoplazi

Adrenal bezlerde hipoplazi

Servikal vertebra anomalileri

Parmak anomalileri

Hipotoni

Serebellum hipoplazisi

Optik sistem agenezisi

Psikomotor gerilik

Hipopituitarizm

Hipotiroidizm

Bkz Fryns sendromu

Bkz Bosma arini sendromu

Bkz MIDAS sendromu

 

  • Morini F, Pacilli M, Spitz L. Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature (Letter). American Journal of Medical Genetics, 132A: 60-62, 2005

  • Nolen LD, Amor D, Haywood A, et al. Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. American Journal of Medical Genetics, 140A: 1711-1718, 2006

  • Bakrania P, Efthymiou M, Klein JC, et al. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and Hedgehog signaling pathways. American Journal of Human Genetics, 82: 304-319, 2008

  • Reis LM, Tyler RC, Schilter KF, et al. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Human Genetics, 130: 495-504, 2011