Odontoid dysplasia in the absence or presence of atlanto‐axial instability was found in all cases. In general, this correlated well with the overall clinical severity of the condition and illustrates the importance of careful follow‐up of these patients. Symptoms or signs of cervical cord compression merit further investigation. Proven compromise of the upper cervical cord is an indication for posterior fusion of the upper cervical spine.

A radiograph of the left hand and wrist was taken in 141 children and young adults with phenylketonuria and hyperphenylalaninaemia. Ten (7.1%) had a bony abnormality and, of these, six (4.3%) showed evidence of reduced bone density. Only one patient had evidence of spiculation of the lower ulnar metaphysis previously described in phenylketonuria. Bone maturity was also assessed in 130 patients by the Tanner-Whitehouse (TW2) method. In 28 patients (21.5%) bone age was less than chronological age by 1 year or more. Bone age delay was greater in younger children on a more restricted diet with a lower intake of natural protein.

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