M

 

MIDAS sendromu (mikroftalmi + lineer deri defektleri)

Kalıtsal - XLD

Gelişme geriliği

Mikroftalmi

Anoftalmi

Retinopati

Katarakt

İşitme sorunları

Baş-boyun derisinde yoğunlaşan doğumsal çizgiler (defektler)

Deri defektlerinin zamanla silinme eğilimi

Kardiyovasküler patolojiler

Ürogenital anomaliler

Anüs anomalileri

Beyin anomalileri

Zeka geriliği

Epileptiform ataklar

 

  • Zvulunov A, Kachko L, Manor E, et al. Reticulolinear aplasia cutis congenita of the face and neck: a distinctiv cutaneous manifestation in several syndromes linked to Xp22. British Journal of Dermatology, 138:1046–1052, 1998

  • Cape CJ, Zaidman GW, Beck AD, Kaufman AH. Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea). Archives of Ophthalmology, 122:1070–1074, 2004

  • Morleo M, Pramparo T, Perone L, et al. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. American Journal of Medical Genetics A, 137(2):190-198, 2005

  • Sharma VM, Ruiz de Luzuriaga AM, Waggoner D, Greenwald M, Stein SL. Microphthalmia with linear skin defects: a case report and review. Pediatric Dermatology, 25(5):548-552, 2008