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What is Patient with growth retardation, delayed milestones with kinky hair. What is the diagnosis? and explain in detail?
The given scenario suggests diagnosis of Menke's disease X- linked recessive disorder caused by mutations in genes coding for the copper transpo protein ATP7A. C/F- Growth retardation Delayed milestones Kinky hair Hypotonia, hypothermia Seizures Lesch nyhan syndrome- self injury Wilson disease- KF ring, neurological & hepatic manisfestation.