Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature.

Abstract excerpt

Cartilage-hair hypoplasia (CHH) is a rare recessive metaphyseal chondrodysplasia characterized by severe short stature, ectodermal dysplasia, anemia in childhood, immune deficiency, susceptibility to malignancy, and normal intelligence. Short, thick long bones, metaphyseal flaring and irregularities, and globular epiphyses at the knees and ankles are the typical radiographic findings. The diagnosis is primarily...

Topics

• Adolescent
• Hair
• Hirschsprung Disease
• Humans
• Immunologic Deficiency Syndromes
• Osteochondrodysplasias
• Phenotype
• Primary Immunodeficiency Diseases
• Radiography