Matsui Y, Kawabata H, Ozono K, Yasui N
Department of Orthopaedic Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Japan.
Pediatr Int. 2001 Aug;43(4):361-3. doi: 10.1046/j.1442-200x.2001.01416.x.
Achondroplasia is a skeletal dysplasia caused by substitution of arginine for glycine at codon 380 (G380R) mutation of the fibroblast growth factor receptor 3. To date, the developmental course of the phenotype (short stature and skeletal characteristics) has not been clarified in the genotyped population.
The relationship between age and clinical data (height, arm span and measurements of skeletal radiographs) were statistically analyzed from 27 achondroplasia patients with the G380R genotype.
The height standard deviation score had positive correlation and decreased with age, while span-to-height ratio did not. Among measurements of skeletal radiographs, the pelvic index, which represents the squared pelvis deformity, were correlated and increased with age. However, interpedicular distance of the first and fourth lumbar vertebrae (L1:L4) ratio as an index for the caudally narrowed pattern of the lumbar spinal canal and fibula-to-tibia ratio for the disproportionally long fibulae were not correlated and did not increase with age.
In making a clinical diagnosis of achondroplasia in early infancy, it should be noted that short stature and squared pelvis deformity are not prominent.
软骨发育不全是由成纤维细胞生长因子受体3的密码子380（G380R）突变导致甘氨酸被精氨酸取代引起的一种骨骼发育不良。迄今为止，在基因分型人群中，该疾病表型（身材矮小和骨骼特征）的发展过程尚未明确。
对27例具有G380R基因型的软骨发育不全患者的年龄与临床数据（身高、臂展和骨骼X线片测量结果）之间的关系进行了统计学分析。
身高标准差评分呈正相关且随年龄增长而降低，而臂展与身高比值则不然。在骨骼X线片测量结果中，代表骨盆方形畸形的骨盆指数与年龄相关且随年龄增加。然而，作为腰椎管尾端狭窄模式指标的第一和第四腰椎椎弓根间距（L1:L4）比值以及腓骨与胫骨不成比例过长的腓骨与胫骨比值与年龄无关且不随年龄增加。
在婴儿早期对软骨发育不全进行临床诊断时，应注意身材矮小和骨盆方形畸形并不突出。
