Which clinical history findings are characteristic of cartilage-hair hypoplasia (CHH)?

Updated: May 27, 2020
  • Author: Francisco J Hernandez-Ilizaliturri, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

CHH manifests in early infancy with chronic diarrhea, failure to thrive, and an erythematous rash with desquamation. Hepatosplenomegaly is common. Patients die in the first few months of life unless successful allogeneic bone marrow transplantation is performed.


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