TITLE

Cartilage-Hair Hypoplasia

AUTHOR(S)
Matesic, Damir; Hagan, John B.
PUB. DATE
June 2007
SOURCE
Mayo Clinic Proceedings;Jun2007, Vol. 82 Issue 6, p655
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
The article discusses the case of a 39-year-old man with cartilage-hair hypoplasia, a rare autosomal recessive metaphyseal chondrodysplasia seen primarily in people of Amish and Finnish origin. The patient, who has history of dwarfism, first showed recurrent respiratory infections, allergies and chronic cough. Physical examination findings coincide with the disease's description, which are disproportionately short stature, limb deformities, fine, sparse, light-colored hair and immunodeficiency.
ACCESSION #
25579561

 

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