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Pediatrics General 9d5a6c47

All are true about cailage, hair hypoplasia syndrome except -

A
Neutropenia
B
Depigmentd hair
C
Non functioning T cells
D
None of the above
High-Yield Explanation
Ans. is 'c' i.e., Non functioning T cells Cailage hair hvpoplasia syndrome o Carilage hair hypoplasia is an unusual form of sho limbed dwarfism with frequent and severe infections. o It is an autosomal recessive condition. Feature of CHH Sho limb dwarfism. o Very fine thin light hairs and eyebrows. o Hyperextensible joints of hands and feet but an inability to extend. o Abnormalities of spine. o Neutropenia o Defective antibody mediated immunity. Severe combined immunodeficiency and combined immunodeficiency. o Decreased number of T cells and defective T cell proliferation, cell mediated immunity is also decreased. o Nothing is written about the function of T cell, only their number is decreased.

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