A 2-month-old male infant born to unaffected parents of average stature presents with rhizomelic short limbs, macrocephaly with frontal bossing, and a depressed nasal bridge. The father is 52 years old. Genetic testing confirms achondroplasia. The inheritance pattern marked **B** in the diagram — autosomal dominant with paternal age effect — is the mechanism underlying this case. Which of the following best explains why new mutations in achondroplasia show a strong paternal age effect?
Ready to test yourself?
Test your Pediatrics knowledge with AI-powered MCQs and detailed explanations — no signup required to try.
Sign up free and practice all 1 Achondroplasia MCQs with AI-powered explanations tailored to your performance.
Create Free Account