Cranial and hand skeleton in fragile X syndrome

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.