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Menkes' syndrome II

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An inherited defect of copper metabolism. Presents in early infancy with failure to thrive and bodily and psychomotor developmental retardation.

Symptoms include coarse, depigmented hair (pili torti - kinky hair) and progressive neurological impairment with severe spasticity and dementia; increased muscle tone, retarded growth, decreased visual function. Inheritance is X-linked recessive. Connective tissue (collagen) abnormalities result in soft bones and cartilage and weakened artery walls. Only males affected. Occurs in people of all ethnic backgrounds. Death in infancy or early child age.

Menkes and collaborators defined the syndrome in 1962 on the basis of five boys in the same family.

Bibliography

  • J. H. Menkes, M. Alter, G. K. Steigleder, D. R. Weakly, J. Ho Sung:
    A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.
    Pediatrics, Evanston, Illinois, 1962, 29: 764-779.

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