Zagorka Pejin

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations

The GALNT3 gene encodes GalNAc‐T3, which prevents degradation of the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Biallelic mutations in either GALNT3 or FGF23 result in hyperphosphatemic familial tumoral calcinosis or its variant, hyperostosis–hyperphosphatemia syndrome. Tumoral calcinosis is characterized by the presence of ectopic calcifications around major joints, whereas hyperostosis–hyperphosphatemia syndrome is characterized by recurrent long bone lesions with hyperostosis. Here we investigated four patients with hyperphosphatemia and clinical manifestations including tumoral calcinosis and/or hyperostosis–hyperphosphatemia syndrome to determine underlying genetic cause and delineate phenotypic heterogeneity of these disorders. Mutational analysis of FGF23 and GALNT3 in these patients revealed novel homozygous mutations in GALNT3. Although the presence of massive calcifications, cortical hyperostosis, or dental anomalies was not shared by all patients, all had persistent hyperphosphatemia. Three of the patients also had inappropriately normal 1,25‐dihyroxyvitamin D [1,25(OH)2D] and confirmed low circulating intact FGF23 concentrations. The four novel GALNT3 mutations invariably resulted in hyperphosphatemia as a result of low intact FGF23, but other clinical manifestations were variable. Therefore, tumoral calcinosis and hyperostosis–hyperphosphatemia syndrome represent a continuous spectrum of the same disease caused by increased phosphate levels, rather than two distinct disorders.

Hip dislocation in 3-M syndrome: risk of misdiagnosis.

Department of Pediatric Orthopedics, Department of Medical Genetics, INSERM U781-Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France and National Academy of Sports, Bucarest, Romania Correspondence to Alina Badina, MD, Department of Pediatric Orthopedics, Service d’orthopédie pédiatrique, Hôpital Necker Enfants Malades, 149 rue de Sèvres, Paris 75015, France Tel: + 33 67 9693634; fax: + 33 14 4381522; e-mail: alina_badina@yahoo.com

Les traumatismes distaux des doigts chez l’enfant

Traumatisms of distal extremities are frequent in children. They can associate fingertip skin, bone and nail complex injuries. Their severity level is very variable, from simple subungual bruise to distal amputation. Initial care needs careful repair of injured structures. Secondary treatment of sequelae is much more difficult.

Fingertip injuries in children

Traumatisms of distal extremities are frequent in children. They can associate fingertip skin, bone and nail complex injuries. Their severity level is very variable, from simple subungual bruise to distal amputation. Initial care needs careful repair of injured structures. Secondary treatment of sequelae is much more difficult.

Long-Term Results of the “Horseman” Procedure for Severe Idiopathic Flatfoot in Children: A Retrospective Analysis of 41 Consecutive Cases With Mean 8.9 Year Duration of Follow-Up

&NA; The “horseman” procedure is a surgical technique used to correct the talocalcaneal joint displacement of severe idiopathic flatfoot in children while maintaining the reduction with a temporary talocalcaneal screw. While this technique has been used since the early 1960s, very little has been reported on its results. Our objectives were to estimate the correction, functional results, and postoperative complications of the “horseman” procedure. We conducted a retrospective study on 23 consecutive patients (41 cases) who underwent the “horseman” procedure for a talocalcaneal joint displacement. Mean follow‐up was 8.9 (range 1 to 28) years, and 8 patients (12 feet) had reached bone maturity at last follow‐up. Mean age at surgery was 6.6 (range 4 to 9.5) years. At last follow‐up, all the patients were asymptomatic except 2 [8.7%] (4 [9.8%] cases). The talocalcaneal divergence on anteroposterior and lateral radiographic views was reduced by 8.9° and 11.4°, respectively, after the surgery, and the correction was maintained with loss of 0.7° and 2.9°, respectively, at final follow‐up. The talonavicular coverage angle was reduced by 25° without loss of correction at last follow‐up. The calcaneal pitch angle did not change after the surgery. Mean American Orthopedic Foot and Ankle Society score increased from 88.7 of 100 (63 of 100 to 93 of 100) preoperatively to 99 of 100 (97 to 100 of 100) at last follow‐up. No major complication occurred. The “horseman” procedure allows an immediate and lasting correction of severe idiopathic flatfoot in children.

Bone and joint infections in infants under three months of age

Studies on bone and joint infections (BJI) in infants under three months are rare. We described the clinical and paraclinical features and outcomes of infants hospitalised with BJI under three months of age.

Mise au pointLes traumatismes distaux des doigts chez l’enfantFingertip injuries in children

Traumatisms of distal extremities are frequent in children. They can associate fingertip skin, bone and nail complex injuries. Their severity level is very variable, from simple subungual bruise to distal amputation. Initial care needs careful repair of injured structures. Secondary treatment of sequelae is much more difficult.

Infections ostéo-articulaires aiguës de l’enfant : place du traitement chirurgical

* Auteur correspondant. e-mail : thierry.odent@nck.aphp.fr L’infection ostéo-articulaire primitive de l’enfant est une urgence chirurgicale. Elle peut revêtir un grand nombre de formes selon qu’elle atteint le tissu osseux et/ou l’articulation, sa localisation, son mode évolutif et surtout l’âge de l’enfant [1,2]. Il s’agit d’une pathologie prise en charge fréquemment dans la pratique de l’orthopédiste pédiatre. Jadis mortelle, elle a vu son pronostic transformé depuis l’apparition des antibiotiques. Actuellement, le risque vital étant le plus souvent écarté, il faut s’attacher à réaliser un diagnostic précoce et un traitement adapté qui garantiront un bon résultat en évitant les séquelles fonctionnelles, les risques de récidive ou de passage à la chronicité.