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. Th e material consisted of craniofacial profile radiographs and hand radiograp hs from six males age between 2 years 9 months and 20 years 3 months. Crani ofacial radiographs showed normal morphology of the nasal bone in all cases . In five cases the sells turcica could be analyzed. In two cases the anter ior wall of the sells was oblique, and in two cases the dorsum sellae appea red short. In one case the sells 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 skele ton appeared normal in the youngest male. In the other five cases there was a deviant location of the carpel bones in the developmental field correspo nding to the first finger. Skeletal maturity was delayed in all cases. In c onclusion, the prenatally registered morphological deviations in the skelet al 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 (C) 20 01 Wiley-Liss, Inc.