Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.

Beukes hip dysplasia is an autosomal dominant disease which has to date been described only in a large South African family of Dutch origin. The patients presented with progressive epiphyseal dysplasia limited to femoral capital epiphysis and their height was not significantly reduced. A unique variant of the ubiquitin-fold modifier 1 (Ufm1)-specific peptidase 2 (UFSP2) gene (c.868T>C) has been reported in all individuals from Beukes family with clinical and radiological diagnosis of Beukes hip dysplasia. Three individuals, propositus, mother, and grandmother, presented with short stature, joint pain, genu vara and a novel spondyloepimetaphyseal dysplasia involving epiphyses predominantly at hips, but also at knees, ankles, wrists and hands, associated with variable degrees of metaphysis and spine involvement. Exome sequencing allowed us to identify the heterozygous variant c.1277A>C of the UFSP2 gene, leading to the missense change p.D426A, in all 3 patients. This mutation is predicted as damaging and, similarly to the mutation originally described in the Beukes family (p. Y290H), directly affects one of the catalytic residues participating in the active site of the protein. This supports the novel notion that loss of catalytic UFSP2 activity, observed in association with different mutants and already experimentally proven in vitro, may have different clinical outcomes.

The psoas muscle as cause of low back pain in infantile cerebral palsy.

Psoas muscle spasticity is hypothesised as a rare cause of low back pain in patients with infantile cerebral palsy. The authors describe a new manoeuvre for the study of psoas tenderness and ultrasound (US)-guided transabdominal botulinum toxin injection technique. A possible causal relationship between psoas tension and low back pain was found incidentally in two examined cases. In subsequent patients, botulinum toxin was injected and, in cases of disappearance of symptoms, the psoas tendon was sectioned at the pelvic brim with definitive disappearance of pain. The relationship between psoas tension and low back pain in patients with infantile cerebral palsy seems likely, given the result in the four patients.

Extensimetric monitoring of healing in the treatment with the Ilizarov apparatus. A multicenter clinical trial.

The results of a multicentric review are reported using the extensimetric instrumentation applied to the Ilizarov device. This clinical trial the follows same theoretical and experimental preliminary studies, outlines the advantages and current limits of the method, and sets the bases for further clinical and experimental research.

[Surgical limb lengthening in patients of short stature. Indications, complications and results]. / Allongement chirurgical chez les patients de petite taille. Indications, complications et résultats.

PURPOSE OF THE STUDY: The authors report their experience in limb lengthening in 55 patients with short stature. MATERIALS AND METHODS: Surgical treatment must begin at the age of 13-15 years to obtain better collaboration from the patient which is necessary to obtain a good result. The general indication for surgery includes short stature between 110 and 150 cm. The major indication is disproportionate short stature. The authors have operated on some cases of short stature in which there was a disproportion between thighs and legs and other short stature without disproportion. In these patients they have tried to obtain the greatest lengthening compatible with good appearance. RESULTS: Examining the complications, the authors have noted that the rate of bone infections is clearly decreased, whereas non union, a frequent complication of the original Wagner method, has completely disappeared. The use of a circular device has not caused an increase of neurological complications, which on the contrary have diminished. DISCUSSION: Surgical lengthening of the lower limbs in disproportionate dwarfism can lead to cosmetic, functional and psychological benefits. The treatment is long and demanding, for the surgeon and especially for the patient. For this reason it is necessary to carefully evaluate the motivations of the patient, who must be well aware of the achievable results as well as of the possible complications. CONCLUSION: Such a treatment must be undertaken in specialized centers, not only owing to surgical difficulties, but especially because it requires a continuous clinical check and a strong post-operative physiotherapy.