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Medicine Miscellaneous da9db8e6

Albinism -

A
Hair bulb for tyrosine positivity test is useful only v/hen the child is 5 years old
B
Is associated with platelets abnormality especially with aspirin
C
Complete decussation is invariable in all albinism
D
Is associated with thrombosis under general anaesthesia
High-Yield Explanation
Hermansky-Pudlak syndrome or abbreted HPS) is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat. Ref Davidson 23rd edition pg 1311

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