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Related Experiment Videos

Cartilage hair hypoplasia

D C Siggers, J B Burke, B Morris

    Postgraduate Medical Journal
    |August 1, 1977
    PubMed
    Summary

    Cartilage hair hypoplasia, a rare genetic disorder, presents with varied symptoms including sparse hair, short stature, and skeletal abnormalities. This study highlights the diverse clinical manifestations observed in six patients from five families.

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    Area of Science:

    • Genetics
    • Pediatrics
    • Skeletal Dysplasias

    Background:

    • Cartilage hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia.
    • CHH is characterized by disproportionate short stature, fine sparse hair, and variable immune deficiency.
    • Previous studies have documented the genetic basis and common clinical features of CHH.