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What is All are true about cartilage, hair hypoplasia syndrome Except - and explain in detail?
Ans. is 'c' Nonfunctioning T cells (Ref. Nelson., 17/e, p 698, 727, 790 (76/e, 625))Cardinal feature of cartilage hair hypoplasia syndrome :*Short limb dwarfism*.*Very fine thin light hairs* and eyebrows.*Hyperextensible joints of hands* and feet but an inability to extend.*Abnormalities of spine.*Neutropenia**Defective antibody mediated immunity.*Severe combined immunodeficiency and combined immunodeficiency*.*Decreased number of T cells and defective T cell proliferation, cell mediated immunity is also decreased.Nothing is written about the function of T cell, only their number is decreased.