Chawla Kirti, Lamba Arundeep Kaur, Faraz Farrukh, Tandon Shruti
Department of Periodontics and Oral Implantology, Maulana Azad Institute of Dental Sciences, New Delhi, India.
J Indian Soc Periodontol. 2012 Jan;16(1):138-40. doi: 10.4103/0972-124X.94624.
Achondroplasia is a non-lethal form of chondrodysplasia. It is a disturbance of endochondral bone formation which results in characteristic dwarfism. It is transmitted as an autosomal dominant trait, with complete penetrance. De novo mutations cause up to 90% of cases. The mutation rate is estimated to be 0.000014 per gamete per generation. It is a rare disorder with a prevalence of 1:10,000 to 1:50,000 births worldwide. A young female patient suffering from achondroplasia reported with oral manifestations showing features of periodontitis, hypoplasia of the mid-face, deep periodontal pockets, and mobility of teeth. This case report highlights this rare anomaly and its oral manifestations.
软骨发育不全是软骨发育异常的一种非致死形式。它是软骨内骨形成的一种紊乱,导致特征性侏儒症。其遗传方式为常染色体显性遗传,具有完全外显率。新发突变导致高达90%的病例。估计每代每个配子的突变率为0.000014。这是一种罕见疾病,全球发病率为1:10,000至1:50,000活产。一名患有软骨发育不全的年轻女性患者报告有口腔表现,显示出牙周炎、面中部发育不全、深牙周袋和牙齿松动等特征。本病例报告突出了这种罕见异常及其口腔表现。