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Klin Padiatr 2015; 227(01): 33-34
DOI: 10.1055/s-0033-1363246
Pictorial Essay
© Georg Thieme Verlag KG Stuttgart · New York

Intrapartum Acquired Skull Fracture as First Sign of Menkes Disease

Intrapartal erworbene Schädelfraktur als erstes Zeichen eines Menkes- Syndroms
P. Freidl
1   Internal Medicine, LKH Voitsberg, Voitsberg, Austria
,
L. Rauter
2   Department of Pediatrics and Adolescent Medicine, LKH Leoben, Austria
,
R. Moser
2   Department of Pediatrics and Adolescent Medicine, LKH Leoben, Austria
,
R. Kerbl
2   Department of Pediatrics and Adolescent Medicine, LKH Leoben, Austria
› Author Affiliations
Further Information

Publication History

Publication Date:
21 January 2014 (online)

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Key words

Menkes disease - copper transport disorder - skull fracture - neurodegeneration - pili torti

Schlüsselwörter

Menkes-Syndrom - Kupfertransportstörung - Schädelfraktur - Neurodegeneration - Pili torti

Supplementary Material

 

  • References

  • 1 Donsante A, Yi L, Zerfas PM. ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Mol Ther 2011; 19: 2114-2123
    CrossrefPubMedGoogle Scholar
  • 2 Haddad MR, Macri CJ, Holmes CS et al. In utero copper treatment for Menkes disease associated with a severe ATP7A mutation. Mol Genet Metab 2012; 107: 222-228
    CrossrefPubMedGoogle Scholar
  • 3 Kaler SG, Holmes CS, Goldstein DS et al. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med 2008; 358: 605-614
    CrossrefPubMedGoogle Scholar
  • 4 Kodama H, Fujisawa C, Bhadhprasti W. Inherited copper transport disorders: biochemical mechanisms, diagnosis and treatment. Curr Drug Metab 2012; 13: 237-250
    CrossrefPubMedGoogle Scholar
  • 5 Kodama H, Murata Y, Kobayashi M. Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int 1999; 41: 423-429
    CrossrefPubMedGoogle Scholar
  • 6 Menkes JH, Alte M, Steigleder GK et al. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 1962; 29: 764-769
    PubMedGoogle Scholar
  • 7 Tønnesen T, Kleijer WJ, Horn N. Incidence of Menkes disease. Hum Genet 1991; 86: 408-410
    PubMedGoogle Scholar
  • 8 Tümer Z, Møller LB. Menkes disease. Eur J Hum Genet 2010; 18: 511-518
    CrossrefPubMedGoogle Scholar
  • 9 Ubhi T, Reece A, Craig A. Congenital skull fracture as a presentation of Menkes disease. Dev Med Child Neurol 2000; 42: 347-348
    CrossrefPubMedGoogle Scholar