Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity.

Phosphoribosylaminoimidazole carboxylase (PAICS) deficiency, caused by biallelic variants in PAICS gene, is an inborn error of de novo purine synthesis. Only two patients from a consanguineous family have been reported, with multiple congenital malformations, resulting in early neonatal death. Molecular analysis identified a homozygous p.

Imaging characteristics of too-long anterior process syndrome in children and adolescents.

Background: In the presence of pain over the lateral aspect of the foot or recurrent ankle sprain in children, medical imaging is often employed to investigate potential causes, such as a calcaneonavicular coalition or a too-long anterior process (TLAP) of the calcaneus. Diagnosis and categorization of calcaneonavicular coalitions (synostosis, synchondrosis, or synfibrosis) is generally facilitated through imaging, in contrast to TLAP, which lacks well-defined semiological characteristics, apart from a calcaneonavicular space measurement of less than 5 mm. However, this measurement initially performed on an oblique view radiograph can be subject to a lack of precision due to positional variations of the foot and overlapping bones.

Functional and radiologic outcomes of non-displaced scaphoid waist fractures in adolescents approaching skeletal maturity: Comparison between conservative treatment and percutaneous screw fixation.

Background: Treatment of scaphoid waist fractures is generally conservative in children but surgical in adults, given the relatively high risk of non-union in adults. In adolescents, the required therapeutic strategy is less well defined. The objective of this study was to compare the radiographic and clinical parameters, and the rate of complications, between non-surgical orthopedic treatment (OT) and surgical treatment (ST) by percutaneous screw fixation of these fractures in adolescents approaching skeletal maturity.

Clinical and radiographic evolution of graduate patients treated with magnetically controlled growing rods: results of a French multicentre study of 90 patients.

Purpose: The purpose of this study was to investigate patients with early-onset scoliosis (EOS) who completed their electromagnetic lengthening rod program to assess the demographics of this population and to analyze the evolution of clinical and radiological parameters and the occurrence of complications.

Methods: This was a multicenter study with 10 French centers. We collected all patients with EOS who had undergone electromagnetic lengthening between 2011 and 2022.

Clinical Characteristics and Distribution of Pediatric Fractures at a Tertiary Hospital in Northern France: A 20-Year-Distance Comparative Analysis (1999-2019).

: The epidemiology and distribution of pediatric fractures change over time and are influenced by a multitude of factors including geography, climate, and population characteristics. The aims of our work were to study the distribution of traumatic pediatric orthopedic injuries admitted to the Lille University Hospital (LUH) Pediatric Emergency Department in 1999 and in 2019 and to analyze the epidemiological differences 20 years apart. This was a retrospective, comparative, monocentric, and epidemiological study involving all children between 0 and 15 years and 3 months of age who consulted the pediatric emergencies of LUH from 1 January 1999 to 31 December 1999 and from 1 January 2019 to 31 December 2019.

Thoracogenic scoliosis: a retrospective review of 129 pediatric patients with a mean follow-up of 10 years.

Purpose: To determine the midterm outcome of lateral thoracotomy (LT) in skeletally immature patients concerning thoracogenic scoliosis development and lung parenchyma resection (LPR) extent.

Methods: In total, 129 children met the inclusion criteria: (1) LT during the study period; (2) skeletally immature at the time of LT; (3) clinical and radiographic follow-up of at least 3 years; and (4) no spinal or thoracic deformity on radiographs before LT. Patients were grouped according to their underlying disease, age at LT, and LPR extent.

The too-long anterior process and osteochondral lesion of the talus: Is there an anatomical predisposition? A case-control study on 135 feet.

Introduction: The too-long anterior process (TLAP) increases mechanical stress on the hindfoot and could lead to osteochondral lesions of the talus (OLT) by localized hyper-pressure. The purpose of this study is to investigate an association between TLAP and OLT in children.

Methods: This is a retrospective, multicenter, case-control study conducted between 2010 and 2020.

Porous Ceramic Sternal Prosthesis Implantation in a 13-Year-Old Patient Presenting with Metastatic Ewing's Sarcoma.

Ewing's sarcoma is the second most frequent primary malignant bone tumor in adolescents and young adults. Locations on the thoracic wall represent up to 20% of primary and secondary locations. We present the case of a 13-year-old patient treated with the use of a radiolucency porous bioceramic prosthesis as a sternal replacement for a wide tumor resection in an oncologic context.

Comparison between anterior cuneiform osteotomy and Dunn procedure in the surgical management of unstable severe slipped femoral epiphysis: A case-control study of 41 patients.

Background: There is little consensus on the best treatment algorithm for unstable severe slipped capital femoral epiphysis (SCFE). Subcapital osteotomy, which is one of the surgical options, is performed either anteriorly (anterior cuneiform osteotomy, CO) or laterally with trochanteric osteotomy (Dunn procedure, DP). The CO is technically easier and decreases operating time.

Original bar fixation technique in minimally invasive repair of pectus excavatum in adolescents: A 36-case series.

In pectus excavatum, minimally invasive endoscopic repair is the current gold standard in adolescents. The main postoperative pitfall is bar displacement, making fixation a major issue. We report an original transcostal technique using absorbable USP-2 suture in 36 patients.

Magnetically controlled growing rod in early onset scoliosis: a 30-case multicenter study.

Purpose: Preliminary results of magnetically controlled growing rods (MCGR) are encouraging. However, only short case series of MCGR for the treatment of early onset scoliosis (EOS) have been reported. Our aim was to evaluate its effectiveness and complications.

Association between Kniest dysplasia and chondrosarcoma in a child.

Constitutive COL2A1 mutations are associated with a wide variety of clinical manifestations known as type II collagenopathies. Among them is Kniest dysplasia, which is phenotypically variable and includes both skeletal (short trunk and limbs, kyphoscoliosis, prominent joints, and osteoarthritis) and craniofacial characteristics. Kniest dysplasia mutations primarily arise in the triple-helicoidal region of the alpha 1 (II) chain in COL2A1 between exons 12 and 24.

Congenital dislocation of the hip: optimal screening strategies in 2014.

A prospective multi-centre nationwide study of patients with congenital dislocation of the hip (CDH) diagnosed after 3 months of age was conducted with support from the French Society for Paediatric Orthopaedics (Société Française d'Orthopédie Pédiatrique [SoFOP]), French Organisation for Outpatient Paediatrics (Association Française de Pédiatrie Ambulatoire [AFPA]), and French-Speaking Society for Paediatric and Pre-Natal Imaging (Société Francophone d'Imagerie Pédiatrique et Prénatale [SFIPP]). The results showed inadequacies in clinical screening for CDH that were patent when assessed quantitatively and probably also present qualitatively. These findings indicate a need for a communication and educational campaign aimed at highlighting good clinical practice guidelines in the field of CDH screening.

Complications in pediatric spine surgery using the vertical expandable prosthetic titanium rib: the French experience.

Study Design: Multicenter retrospective study of 54 children.

Objective: To describe the complication rate of the French vertical expandable prosthetic titanium rib (VEPTR) series involving patients treated between August 2005 and January 2012.

Summary Of Background Data: Congenital chest wall and spine deformities in children are complex entities.

Unpredictability of hip behavior in Dyggve-Melchior-Clausen syndrome: a mid-term assessment of siblings.

Dyggve-Melchior-Clausen syndrome is a rare spondylo-epiphyseal disease, which almost constantly leads to both bilateral hip degeneration and dislocation. Few authors have reported to date the surgical management of this orthopaedic disorder. We present two new cases affecting siblings.

Congenital high scapula (Sprengel's deformity): four cases.

We report a series of four cases of congenital high scapula (or Sprengel's deformity) diagnosed and followed in our establishment. The main feature of this very rare congenital malformation of the pectoral girdle is an abnormally high, more or less dysmorphic scapula. A congenitally high scapula is often discovered in young children, when consequences for aesthetics, and sometimes functional difficulties, are brought to light.

Progressive anterior vertebral fusion: a report of three cases.

We report a series of three cases of progressive anterior vertebral fusion diagnosed and monitored in our establishment. This very rare condition was discovered in young children while exploring a spinal deformity. With X-rays of the thoracolumbar spine it was possible to make a positive diagnosis and ensure follow-up.

Meningococcal purpura fulminans in children. II: Late orthopedic sequelae management.

Background: Purpura fulminans is a rare and extremely severe infection, mostly due to Neisseria meningitidis. Nineteen patients were followed up immediately after the initial multivisceral failure in order to diagnose late-onset orthopedic sequelae. We report our experience with these 19 patients, in light of our medical follow-up protocol and surgical management.

Meningococcal purpura fulminans in children: I. Initial orthopedic management.

Background: Purpura fulminans is a rare and extremely severe infection, mostly due to Neisseria meningitidis frequently causing early orthopedic lesions. Few studies have reported on the initial surgical management of acute purpura fulminans. The aim of this study is to look at the predictive factors in orthopedic outcome in light of the initial surgical management in children surviving initial resuscitation.

Bilateral dysplasia epiphysealis hemimelica of the talus associated with a lower leg intramuscular cartilaginous mass.

Dysplasia epiphysealis hemimelica (DEH), or Trevor disease, is a rare skeletal dysplasia characterised by an osteocartilaginous mass arising from an epiphysis. It affects single or multiple epiphyses in children, usually in the lower limb, predominantly the knee and ankle. Bilateral involvement is extremely rare, with only four cases reported in the literature to date.