Recent studies of the fibroblast growth factor receptor 3 (FGFR3) gene have established that achondroplasia and hypochondroplasia are allelic disorders of different mutations.

To determine whether the genotype could be distinguished on the basis of the phenotype, we analysed height, arm span, and skeletal radiographs from 23 patients with achondroplasia and the G380R mutation of FGFR3 and eight with hypochondroplasia and the N540K mutation. Both conditions share the classical pathological features of micromelic short stature, reduced or unchanged interpedicular distances in the lumbar spine, disproportionately long fibulae, and squared and shortened pelvic ilia. These were significantly more severe in the G380R patients than in the N540K patients.

Our findings have shown a firm statistical correlation between the genotype and the phenotype, although there were a few exceptional cases in which there was phenotypic overlap between the two conditions.

We used the Ilizarov method in seven patients with severe congenital radial club hands who had had previous wrist surgery, to correct residual shortening and bowing of the ulna together with recurrent wrist deformity.

The mean age at operation was 6.5 years. The mean ulnar shortening was 5.3 cm and the mean angular deformity 42°.

The mean length gained was 51% of the original ulna. The mean healing index was 46.9 days (29.8 to 64.0). The ratio of the length of the lengthened ulna to the normal side improved on average from 64% to 95%. The angular deformity was initially completely corrected in six out of seven patients. The length ratio, however, decreased to 83% at the final follow-up. In four patients, the angular deformity partially recurred.

We recommend correction of congenital radial club hand by staged procedures. The first is centralisation and stabilisation of the wrist and the second lengthening of the ulna and correction of the angular deformity using the Ilizarov method.

We studied the motor evoked potentials (MEP) in the biceps of 25 patients with traumatic brachial plexus palsy from root avulsion after cross-innervation by intercostal nerves. We used transcranial, transcervical and transthoracic magnetic stimulation at 8 to 235 months (mean 51) after transfer of intercostal nerves to the musculocutaneous nerve. Biceps strength recovered to MRC grade 2 in eight patients, grade 3 in three and grade 4 in 14. The mean latency of the MEP in the normal biceps on transcranial stimulation was 12.5 +/- 1.3 ms and on transcervical stimulation 6.3 +/- 1.1 ms. After intercostal reinnervation the mean latency on transcranial stimulation was 21.7 +/- 4.5 ms and on transthoracic stimulation 11.6 +/- 3.8 ms. The latency of the biceps MEP after reinnervation by intercostal nerves on transcranial and transthoracic magnetic stimulation correlated well with the duration of follow-up and the latency of the MEP on transthoracic magnetic stimulation correlated significantly with muscle power.

We used evoked spinal cord potentials (ESCP) for intraoperative diagnosis in 17 cases of traumatic brachial plexus palsy. Forty spinal nerves were directly stimulated during exploration of the brachial plexus and ESCP recorded from the cervical epidural space were compared with simultaneously observed somatosensory evoked potentials (SEP) and myelographic findings. Both SEP and ESCP could be evoked in 21 spinal nerves but ESCP were always more distinct and five to ten times greater in amplitude than SEP. In four nerves, ESCP but no SEP were produced, suggesting that there was continuity from the nerves to the spinal cord. ESCP were obtained from two spinal nerves which appeared to be abnormal on the myelogram. The results show that intraoperative electrodiagnosis by epidural ESCP recordings can provide useful information on the lesions of traumatic brachial plexus palsy.

We reviewed 36 cases of forearm deformity caused by multiple osteochondromas in 30 patients and classified them into three types: Type I showed a combination of ulnar shortening and bowing of the radius secondary to osteochondromas of the distal ulna (22 forearms). Type II showed dislocation of the radial head, either with osteochondromas of the proximal radius (Type IIa, two forearms) or secondary to more distal involvement (Type IIb, five forearms). Type III had relative radial shortening due to osteochrondromas at the distal radius (seven forearms). Operations were performed on 16 forearms in 13 patients, with 92% of satisfactory results. For Type I deformity, excision of osteochondromas, immediate ulnar lengthening and corrective osteotomy of the radius are recommended. For Type IIa, excision of the radial head is necessary, and for Type IIb, we advise gradual lengthening of the ulna using an external fixator. Excision of osteochondromas alone gave good results in Type III deformity. Our classification gives a reliable indication of the prognosis and is a guide to the choice of surgical treatment.