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Cartilage hair hypoplasia
Postgraduate Medical Journal
|August 1, 1977
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.
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.