The news correspondents obtained a quote from the research from PGIMS, "The diagnosis can be confirmed by a low plasma level of copper and ceruloplasmin. The prognosis of classical Menkes disease is poor. We report a case of Menkes kinky hair disease with characteristic clinical, laboratory, and radiological findings with significant macrocephaly (above 95th percentile for age)."
According to the news reporters, the research concluded: "Reporting of this case is of significance because of its rarity and association with significant macrocephaly."
For more information on this research see: Menkes kinky hair syndrome: A case report. Dermatology Online Journal [electronic Resource], 2012;18(11):4.
Our news journalists report that additional information may be obtained by contacting S. Ghosh, PGIMS, Rohtak, Haryana, India.
Keywords for this news article include: Asia, India, Haryana, Genetics, Dermatology, Hair Diseases, Skin Diseases, Menkes Disease, Inborn Brain Diseases, Neurologic Manifestations, Menkes Kinky Hair Syndrome, Neurodegenerative Diseases, X Linked Mental Retardation, Inborn Errors Metal Metabolism, Neurobehavioral Manifestations, Central Nervous System Diseases.
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