severe achondroplasia with developmental delay and acanthosis nigricans(English)

• achondroplasia is the most common type of short-limbed dwarfism in children resulting from FGFR mutations. Activating mutations of FGFR3 also result in other forms of skeletal dysplasia and craniosynostosis. Acanthosis nigricans is associated with these skeletal dysplasias
• FGFR
• Pediatrics, Musculoskeletal system
• https://doi.org…5/jpem.2011.290