Lin S C, Li Y W, Wang T R
Department of Radiology, Chang Gung Memorial, Taipei, Taiwan, R.O.C.
Changgeng Yi Xue Za Zhi. 1994 Dec;17(4):352-8.
Achondroplasia is the most common type of inheritant dwarfism. The diagnosis is mainly depended on clinical and plain film presentation. This study mainly focus on the characteristic presentation of plain film in achomdroplasia. We try to find the most consistent presentation and explain it through the development and growth of bone. The presentation in our 16 cases is as follows: Metaphyseal flaring 100% (16/16), Concave backs of vertebral body 100% (4/4), Short & wide tubular bone of hand & foot 85% (12/24). Square iliac bone 78% (11/14), Flare anterior end of ribs 76% (10/13), Decrease interpeduncular distance of lower L-spines 64% (9/14), Proimal < distal tubular bone 33% (5/15). Disproportionately long fibular bone 8% (1/13). We also analyze the heritant characteristics and conclude that most of achondroplasia are caused by mutation. The heritant trait is only 6%. According to bone age study, we found high percentage (31%) of delayed bone maturation.
软骨发育不全是最常见的遗传性侏儒症类型。诊断主要取决于临床和X线平片表现。本研究主要关注软骨发育不全患者X线平片的特征性表现。我们试图找出最一致的表现，并通过骨骼的发育和生长来解释。我们16例患者的表现如下：干骺端增宽100%（16/16），椎体后缘凹陷100%（4/4），手足管状骨短而宽85%（12/24）。髂骨方形78%（11/14），肋骨前端增宽76%（10/13），下腰椎椎弓根间距减小64%（9/14），管状骨近端＜远端33%（5/15）。腓骨过长8%（1/13）。我们还分析了遗传特征，得出结论：大多数软骨发育不全是由突变引起的。遗传特征仅为6%。根据骨龄研究，我们发现骨成熟延迟的比例很高（31%）。
