Achondroplasia: A form of disproportionate dwarfism - A case report

Abstract

Achondroplasia is a genetic disorder that is due to mutation of fibroblast growth factor receptor (FGFR3) gene and it results in dwarfism. It is inherited as an autosomal dominant trait. The classical clinical features seen are disproportionate dwarfism, rhizomelic shortening (proximal limbs), short fingers and toes with trident hands, large head with prominent forehead (frontal bossing), small mid face with flattened nasal bridge, spinal kyphosis or lordosis, varus (bowleg), and valgus (knock knee) deformities. Oral findings include macroglossia, tongue thrust swallowing pattern, posterior crossbite, anterior open bite, anterior reverse overjet, etc., This case report present the features and oral treatment protocol for Achondroplasia.

Keywords

• achondroplasia
• disproportionate dwarfism
• kyphosis
• mutation
• rhizomelia