M

 

Menkes sendromu

Kalıtsal - XLR

Bakır metabolizması sorunu

Gelişme geriliği

Mikrosefali

Çubuksu-kaba-seyrek-aklaşmış saçlar

Yanaklar dolgun

Maksilla hipoplazisi (mikrognati)

Alveol kretleri kalın (üstçene lateral)

Çukur damak

Deri kuru

Hipopigmentasyon

Karın kasları hipoplazisi/aplazisi

Herniler

Osteoporoz

Toraks deformasyonu

Hipoglisemi

Zeka geriliği

İntrakraniyal kanama

Epilepsi

Hipotoni

3 yaşından önce ölüm riski

 

  • Borm B, Moller LB, Hausser I, et al. Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family. Journal of Pediatrics, 145:119–121, 2004

  • Donsante A, Tang JR, Godwin SC, et al. Differences in ATP7A gene expression underlie intra-familial variability in Menkes disease/occipital horn syndrome. Journal of Medical Genetics, 44:492–497, 2007

  • De Bie P, Muller P, Wijmenga C, Klomp LWJ. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. Journal of Medical Genetics, 44: 673-688, 2007

  • Smpokou P, Samanta M, Berry GT, et al. Menkes disease in affected females: the clinical disease spectrum. American Journal of Medical Genetics A, 167A: 417-420, 2015