... rarely required. Skull radiographs often have a "beaten copper" appearance. Mild craniosynostosis is frequently noted in skull ... cancers, and neural tumors [ Shahmarvand et al 2018 ]. References Literature Cited Arora M, Bagi P, Strongin A, ...

... May be seen: Low serum ceruloplasmin & high urinary copper NBIA 6 See footnote 7. AR, AD, XL ... posted live 12 June 2017 (gh) Original submission References Literature Cited Heimer G, Kerätär JM, Riley LG, ...

... panda sign ↓ serum ceruloplasmin ↑ serum non-ceruloplasmin-bound copper SLC39A14 deficiency SLC39A14 AR Parkinsonism Spasticity Dysarthria Bulbar ... live 19 October 2017 (la/mak) Original submission References Literature Cited Barski A, Cuddapah S, Cui K, ...

... N, Reardon W. Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...

... lipofuscinosis, Menkes kinky hair disease (see ATP7A -Related Copper Transport Disorders ), and in association with hypoxic ischemic ... Responsive Dystonia 30 June 2001 (yf) Original submission References Literature Cited Abeling NG, Duran M, Bakker HD, ...

... heavy metal metabolism Wilson disease , a disorder of copper metabolism, typically includes craniocervical dystonia that can be ... posted live 8 April 2003 (an) Original submission References Literature Cited Bhatia KP. Paroxysmal dyskinesias. Mov Disord. ...

... type C , and Menkes disease (see ATP7A -Related Copper Transport Disorders ). Atypical Neuroaxonal Dystrophy (NAD) Initial speech ... posted live 14 June 2007 (ag) Original submission References Literature Cited Al-Maawali A, Yoon G, Feigenbaum ...

... 1 Occipital horn syndrome (OHS) / Menkes (See ATP7A Copper Transport Disorders .) XL + – + + +++ Bony exostoses, intracranial & retinal tortuosity ... posted live 1 December 2014 (zu) Original submission References Literature Cited Adamo CS, Beyens A, Schiavinato A, ...

... to adulthood. ATP7B Wilson disease AR Disorder of copper metabolism that, when untreated, can present w/hepatic, ... posted live 9 September 2013 (np) Original submission References Literature Cited Asmus F, Horber V, Pohlenz J, ...

... plus a barrier (diaphragm &/or condom) 1 A copper-releasing IUD is theoretically the safest in women ... live 9 April 2012 (mb/bw) Original submission References Literature Cited Aggarwal N, Bagga R, Sawhney H, ...