Department of Oral Medicine and Radiology, Saveetha Dental College, Chennai, Tamil Nadu, India.
Indian J Dent Res. 2020 Sep-Oct;31(5):794-798. doi: 10.4103/ijdr.IJDR_303_19.
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.
软骨发育不全是一种遗传性疾病，由于成纤维细胞生长因子受体 (FGFR3) 基因突变所致，表现为侏儒症。它作为常染色体显性遗传特征遗传。其典型的临床特征为不成比例的侏儒症、肢端短（四肢近端）、短手指和脚趾呈三叉手、大头伴突出的前额（额骨隆起）、中面部小伴扁平的鼻梁、脊柱后凸或前凸、膝内翻和膝外翻畸形。口腔表现包括巨舌、舌前伸吞咽模式、后牙反合、前牙开颌、前牙反覆盖等。本病例报告介绍了软骨发育不全的特征和口腔治疗方案。
