This research considered the impact on parents of children with bleeding disorders of the increased use of home-based treatment and greater parental responsibility for management of the condition. Although they have undoubted advantages, these changes also present parents with new challenges. Some found administration of the treatment difficult, and decisions about treatment and the everyday management of the condition can also prove problematic. Services should be aware of these issues and help parents access appropriate support.

Three unrelated patients with identical radiological features are presented. Hypotonia was noted at birth and one patient was diagnosed as having congenital fibre type disproportion in the neonatal period. Later muscle biopsies, however, were entirely normal. All patients, now in their teens and twenties, are of normal inteligence, show striking epiphyseal and metaphyseal changes of the long bones, and have joint laxity and multiple dislocations of large joints, which are particularly incapacitating at the knees. These three cases represent a sporadic, previously unreported skeletal dysplasia with spondyloepimetaphyseal distribution and multiple large joint dislocations. (JMed Genet 1998;35:566-572)

Anxiety about the use of etretinate in children has been provoked by several reports describing skeletal abnormalities during long-term therapy. However, we have observed no evidence of skeletal toxicity in 42 children treated over an 11-year period. Radiological screening before and during treatment has failed to reveal abnormalities that would influence our decision to commence or to continue etretinate administration. We recommend that children who are to be treated with etretinate should have a baseline selective skeletal survey, with follow-up radiology restricted to those with pretreatment radiological abnormalities and those who develop musculo-skeletal symptoms. In addition we advise that dosage should not exceed 1 mg/kg/day. If these guidelines are followed, we believe that long-term therapy with etretinate can be given to children, with an acceptable margin of safety.

Bilateral microtia, absent patellae, short stature, poor weight gain, and characteristic facial features are described in two female sibs. Other skeletal anomalies included complete habitual dislocation of the elbow, slender ribs and long bones, abnormal modelling of the glenoid fossae with hooked clavicles, and clinodactyly. Bone age was significantly delayed and there was flattening of the epiphyses. This unusual combination of features has many similarities to the syndrome described by Hurst et a].In 1988 Hurst et all described two unrelated males with small ears, short stature, absent patellae, characteristic facial features, and skeletal anomalies. The boys were matched through the London Dysmorphology Database 'unknowns' group. Both boys had in addition unusual and similar radiographic findings. In particular, there were flat, abnormally modelled glenoid fossae with dislocation of the radial heads and hooked clavicles. Bone age was markedly delayed with abnormal epiphyses in both children. The two boys differed in that the second boy died at 4 days of age and was found to have an atrial septal defect, small adrenal glands, and bilateral hydronephrosis, while the other remained well aged 4j years but was found to have an IQ of 60 and craniosynostosis.

No abstract