Hirschsprung disease associated with severe cartilage-hair hypoplasia.
Cartilage-hair hypoplasia is a chondrodysplasia with a high incidence of Hirschsprung disease. This study suggests that Hirschsprung disease is associated especially with severe cartilage-hair hypoplasia: the patients with Hirschsprung disease had severe growth failure and a higher incidence of alopecia, infections, malignancies, and childhood anemia than the patients with cartilage-hair hypoplasia who did not have Hirschsprung disease.
Mäkitie
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O
Hospital for Children and Adolescents, Helsinki University Hospital, PO Box 281, Helsinki, FIN-00029, Finland.
Kaitila
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Rintala
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R
D005097:Exostoses, Multiple Hereditary / Q000150:complications*; D005260:Female; D006128:Growth; D006197:Hair / Q000002:abnormalities*; D006627:Hirschsprung Disease / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male