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  • Menkes (kinky) hair syndrome
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  • menkes kinky hair diseaes
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  • steely hair disease => Menkes kinky syndrome
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MKHS Menkes' kinky hair syndrome
MS Maffuci syndrome; maladjustment score; mandibular series; Marfan syndrome; Marie-Strumpell [syndrome...
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menkes kinky-hair syndrome <radiology> Defective intestinal copper absorption, X-linked recessive, males only, presents in early infancy, Wormian bones
(12 Dec 1998)
Menkes' syndrome Kinky hair disease, congenital defect of copper metabolism manifested in short, sparse, poorly pigmented kinky hair; associated with failure to thrive, physical and mental retardation, and progressive severe deterioration of the brain; apparently a defect of copper transport; X-linked recessive inheritance.
Synonym: kinky-hair disorder, Menkes' syndrome, trichopoliodystrophy.
(05 Mar 2000)
Menkes, John <person> U.S. Neurologist, *1928.
See: Menkes' syndrome.
(05 Mar 2000)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 1 ÆäÀÌÁö: 1
  • Menkes Kinky Hair Syndrome - »õâ An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)
    Synonyms : Congenital Hypocupremia, Kinky Hair Disease, Menkes Disease, Menkes' Disease, Steely Hair Disease, Congenital Hypocupremias, Disease, Steely Hair, Diseases, Kinky Hair, Diseases, Menkes', Diseases, Steely Hair, Hair Diseases, Kinky, Hair Diseases, Steely
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Menkes syndrome A birth defect with unusually curled hair among other anomalies.
Ãâó: www.lieberson.com/en/neurgosurgery_glossary/k.htm
Menkes s. a hereditary abnormality in copper absorption; the resultant copper poisoning causes symptoms such as sparse brittle twisted scalp hair, severe cerebral degeneration, and arterial changes with death in infancy; it is transmitted as an X-linked recessive trait. Called also kinky hair s. and steely hair s.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
Menkes disease Metabolic defect resulting from a mutation on the X chromosome that alters the transport of copper within the human body, resulting in neurological degeneration, connective tissue disorders, and premature death. SEE: kinky hair
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