Achondroplasia and periodontal disease

• DOI: 10.4103/0972-124x.94624
• Publication Date: 2012-04-03T05:13:36Z
• Authors: Kirti Chawla; ArundeepKaur Lamba; Farrukh Faraz; Shruti Tandon
• Keywords: Achondroplasia; Penetrance; Autosomal recessive trait; Endochondral ossification; Dwarfism

Achondroplasia is a non-lethal form of chondrodysplasia. It disturbance endochondral bone formation which results in characteristic dwarfism. transmitted as an autosomal dominant trait, with complete penetrance. De novo mutations cause up to 90% cases. The mutation rate estimated be 0.000014 per gamete generation. rare disorder prevalence 1:10,000 1:50,000 births worldwide. A young female patient suffering from achondroplasia reported oral manifestations showing features periodontitis, hypoplasia the mid-face, deep periodontal pockets, and mobility teeth. This case report highlights this anomaly its manifestations.