Kjaer I, Hjalgrim H, Russell B G
Department of Orthodontics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Denmark.
Am J Med Genet. 2001 Apr 22;100(2):156-61. doi: 10.1002/ajmg.1226.
The purpose of the present study was to track prenatally observed skeletal deviations in radiographs from fragile X syndrome children and young adults in a search for improvement of early diagnostics of fragile X syndrome. The material consisted of craniofacial profile radiographs and hand radiographs from six males age between 2 years 9 months and 20 years 3 months. Craniofacial radiographs showed normal morphology of the nasal bone in all cases. In five cases the sella turcica could be analyzed. In two cases the anterior wall of the sella was oblique, and in two cases the dorsum sellae appeared short. In one case the sella turcica had normal structure. In two cases, the cervical column was suitable for examination. In one, body fusion and short arcus occurred. Of the six hand radiographs analyzed, the hand skeleton appeared normal in the youngest male. In the other five cases there was a deviant location of the carpal bones in the developmental field corresponding to the first finger. Skeletal maturity was delayed in all cases. In conclusion, the prenatally registered morphological deviations in the skeletal development of fragile X syndrome fetuses were found in 5 of 6 fragile X males and young adults. We suggest that a skeletal analysis be considered in the phenotypic classification of children with fragile X syndrome.
本研究的目的是追踪脆性X综合征儿童和青年在产前X线片中观察到的骨骼偏差，以寻求改善脆性X综合征的早期诊断。材料包括6名年龄在2岁9个月至20岁3个月之间男性的颅面侧位X线片和手部X线片。颅面X线片显示所有病例鼻骨形态正常。5例可分析蝶鞍。2例蝶鞍前壁倾斜，2例蝶鞍背短。1例蝶鞍结构正常。2例颈椎适合检查。1例出现椎体融合和短弓。在分析的6张手部X线片中，最年轻男性的手部骨骼看起来正常。在其他5例中，与第一指相对应的发育区域腕骨位置异常。所有病例骨骼成熟均延迟。总之，在6名脆性X男性和青年中，5例发现了产前记录的脆性X综合征胎儿骨骼发育形态偏差。我们建议在脆性X综合征儿童的表型分类中考虑进行骨骼分析。
