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
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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
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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
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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
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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