Case Reports
Joyson Moses, Rangeeth BN, Dee
Abstract
Achondroplasia a common form of dwarfism, caused by a single recurrent point mutation in more than 97% of patients, is an autosomal dominant disorder with an incidence of approximately 1/7500. The name of this disease was called Chondrodystrophia foetalis before Parrot in 1878 reported the name of this disease as Achondroplasia, distinguished from other similar diseases. The present case report deals with a patient who was diagnosed with achondroplasia. The craniofacial features are discussed and the management done and planned for further management has been discussed.