Craniofacial Manifestation and Orthosurgical Management of a Patient with Achondroplasia

Abstract

Achondroplasia is a bone growth disorder results due to failure in endochondral ossification, conversion of cartilages into mature bones. It is the most common metaphyseal dysplastic condition of long bones. The incidence of achondroplasia is 1:25000–30,000 of live births. Our patient was a diagnosed case of achondroplasia, characterized by short stature, disproportionately short arms and legs, and short fingers. Craniofacial features include prominent forehead (frontal bossing), short cranial base, short nose, depressed nasal bridge, short upper lip leading to increased incisal show along with gingival visibility and hyperactive mentalis. Intraoral examination revealed constricted maxillary arch, multiple missing teeth, increased overjet of 12 mm, nonspecific molar, and canine relation bilaterally. Therapeutic intervention included orthosurgical management, i.e., Stage I (presurgical orthodontics)-leveling and alignment followed by closure of extraction spaces; Stage II (surgical management)–le fort-1 osteotomy and maxillary superior repositioning of 6 mm followed by 5 mm bilateral sagittal split ramus osteotomy with anticlockwise rotation of body of the mandible; and Stage III–settling of occlusion and fixed retention in maxillary and mandibular arch. Present case highlights the craniofacial manifestations of achondroplasia its effective management and the potential complications associated. Treating orthodontist should be aware of these features and their consequences in managing the patient to achieve a successful outcome.