Craniofacial morphology in young patients with Turner syndrome

The craniofacial morphology of 33 Turner syndrome patients, aged 7-16.7 years, was evaluated by standard cephalometric methods. The sample was subdivided according to karyotype and 72 normal girls aged 7.1-16.1 years served as controls. The size of the calvarium and face was generally smaller in the Turner group than in the controls. The morphology was characterized by a flattened cranial base angle, a marked reduction in posterior cranial base length, facial retrognathism and short and posteriorly rotated jaws. The same morphological pattern was found in all the karyotypes, but the deviations were most pronounced in monosomy X (45X) patients. The results indicate that a deviating pattern of craniofacial size and morphology has already been established in childhood. It is suggested that the deviations originate in the fetal period, when the primary cartilages form the craniofacial skeleton.