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What is Jansen Chondrodysplasia: Craniofacial Study about?

This research article analyzes the craniofacial manifestations of Jansen metaphyseal chondrodysplasia (JMC), an ultra-rare disorder caused by mutations in the PTH1R gene. The study found distinct facial features, including mandibular retrognathia, delayed tooth eruption, and significant airway stenosis, along with hearing loss in many patients. The findings highlight the critical role of PTH1R signaling in craniofacial development and the need for careful monitoring of associated complications.

Author

carlos1211805752

Language

EN