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Exam questionKROK 1Medicine ยท 2008

Examination of a 12-year-old boy with developmental lag revealed achondroplasia: disproportional constitution with evident shortening of upper and lower limbs as a result of growth disorder of epiphyseal cartilages of long tubal bones. This disease is:

Answer options

  1. Inherited, sex-linked
  2. Acquired
  3. Congenital
  4. Inherited, dominant
  5. Inherited, recessive
Correct answer

Inherited, dominant

Explanation

Achondroplasia is a genetic disorder that results in dwarfism due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. It is inherited from one's parents in an autosomal dominant manner. This therefore means, it is inherited, dominant.

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