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. HYPOTHESIS: ST of non-displaced scaphoid waist fractures in adolescents allows radiographic union, a functional result and a complication rate comparable to that of ST. METHODS: This single-center retrospective study included patients who presented with a non-displaced scaphoid waist fracture, with a chronological age (CA) and a bone age (BA) between 14 and 18 years. Clinical and radiographic parameters and complications were analyzed during the trauma and at one year, including functional scores, between two groups of patients; OT and ST. RESULTS: Thirty-seven patients had OT (63.8%) and 21 had ST (36.2%). The median CA was 16 years [14.25-16]. The median BA was 16 years [15;17] according to the Greulich and Pyle method and corresponded to R9 [R7-R10] and U7 [U7;U8] according to the Distal Radius and Ulnar (DRU) classification system. All non-unions were found in the OT group (23.4% vs. 0%, p=0.019). The duration of immobilization (8 weeks) and the number of consultations were higher after OT than ST. Functional scores were lower in patients with non-union after OT (p≤0.002) CONCLUSION: OT of scaphoid waist fractures in adolescents results in a higher rate of non-union than ST, similar to the rate found in adults. Findings from this study recommend a surgical approach by percutaneous screw fixation. LEVEL OF EVIDENCE: III; comparative retrospective study.

Congenital malformations of the hand and forearm in children: what radiologists should know.

Congenital upper limb malformations represent complex pathologies because of their varied clinical presentations, imaging features, and etiologies. They can be divided into (1) failure of formation with transverse, intercalary, and longitudinal (preaxial, postaxial, and mesoaxial) deficiencies, (2) failure of differentiation with synostoses, carpal coalitions, syndactylies, and symphalangism, (3) duplication with ulnar dimelia and polydactylies, and (4) brachydactylies. Congenital Madelung's deformity, clinodactyly, camptodactyly, and Kirner's deformity are usually included in these malformations. Despite advances in molecular diagnosis, a good knowledge of clinical and imaging features as well as special consideration of other skeletal or nonskeletal abnormalities are essential to eventually diagnose an embryo fetopathy (maternal valproate treatment, constriction band syndrome), a genetic disorder (trisomy 21 or Down syndrome, Turner's syndrome, Holt-Oram syndrome), or a nongenetic syndrome (vertebral, anal, cardiac, tracheal, esophageal, renal, limb association, Poland's syndrome). Genetic counseling for a child presenting with a congenital upper limb malformation is of great value, both for the treating team and the parents, and imaging is often required. The latter is still largely supported by conventional radiography, both for diagnosis and functional prognosis, but ultrasound and magnetic resonance imaging will be great tools in the near future to better evaluate these conditions.

Epidemiology of pediatric hand surgery emergencies. Retrospective study of 245 patients seen over 10 months in two referral centers.

BACKGROUND: The primary objective of this retrospective study was to analyse the epidemiology and assess the characteristics of all paediatric hand injuries requiring emergent surgery. HYPOTHESIS: Paediatric hand emergencies that require surgical treatment have a specific epidemiological distribution. METHODS: We conducted a multicentre retrospective descriptive epidemiological study of surgical paediatric hand emergencies seen over 10 consecutive months. RESULTS: We included 245 patients between the 1st of January and the 31st of October 2016. Irrespective of age, most injuries (69%) occurred at home; 11% (n=26) occurred at school and 4% in a sports centre. Overall, most injuries involved the dorsal aspect and affected the fingers more often than the hand. The most common lesion was crush injury of a distal phalanx (36% of cases). Door guards were in use in only 9% of homes (n=8), and mean age of the patients in this group was 5 years Paronychia/acute infections accounted for 27% of cases. Wounds of the hands of fingers made up 23% of cases, with the palmar aspect being involved in 70% of cases. The wound was often due to the use of a sharp-edged object. Fractures/dislocations accounted for 12% of cases and bites or scratches for 2%. DISCUSSION: This study showed that the most common hand injuries requiring emergent surgery in a paediatric population are crush injuries of the fingertip such as door-crush injuries, which most often occur at home. Reinforcing prevention strategies should be the main priority in order to decrease the incidence of hand lesions in children. Raising awareness among parents and improving the education of the public could significantly decrease the incidence of these injuries. LEVEL OF EVIDENCE: IV; retrospective cohort.

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. Focal radiation therapy was not possible due to the high risk of severe myocardial injuries caused by the sternal location of the tumor. The sternum CERAMIL® (I.CERAM, Limoges, France), in porous alumina (Al 2 O 3 ) has already been implanted into adults in sternal replacement during its invasion by a tumor or its infectious destruction. There were no complication concerning the surgery. The last follow-up at 2 years postoperatively reveals a satisfactory clinical situation with any functional thoracic complaint and nor any functional respiratory symptoms. The porous alumina sternal prosthesis offers a reliable alternative for sternal replacement indications for children 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. Moreover, because the DP was the standard in our department before it was replaced by the CO, we had a series of consecutive patients. Therefore, we did a retrospective case-control study in unstable, severe SCFEs treated by CO versus DP, which is to our knowledge the first one aiming to compare: (1) postoperative complications and in particular avascular necrosis, (2) functional outcome, (3) radiologic findings. HYPOTHESIS: CO is less or just as likely to cause avascular necrosis and has the same clinical and radiologic findings as DP. METHODS: A total of 41 patients (24 girls, i.e. 58.5%) were included between 2005 and 2018: 23 in the CO group and 18 in the DP group. The median age was 12.9 years (range, 11.5-14.9) and the median slip angle 70̊ (range, 62.5̊-80̊) with a median follow-up of 3 years (range, 2-4). Preoperative, intraoperative, and postoperative clinical and radiologic parameters (Southwick and alpha angles, and femoral head-neck offset) were analyzed, and all complications were documented. RESULTS: Two (8.7%) cases of avascular necrosis were reported in the CO group and 6 (33.3%) in the DP group (p=.11), with an overall rate of avascular necrosis of 19.5% (8/41). Five out of the 41 patients (12.2%) underwent a total hip arthroplasty: 1/23 (4.3%) in the CO group and 4/18 (22.2%) in the DP group (p=.16). Two (9.5%) patients in the CO group and 7 (38.9%) in the DP group developed postoperative limping before any arthroplasty was performed (p=.055). The alpha angle at follow-up (54±6.1̊ vs. 59.1±7.2̊; p=.027), Oxford hip score at follow-up (17/60 [range, 14-20] vs. 23.5 [range, 19-27]) (p=.021), operating time (132 min [range, 103-166] vs. 199.5 min [range, 142-215]) (p=.011) and intraoperative bleeding (250 mL [range, 100-350] vs. 300 mL [range, 197-450]) (p=.088) were more favorable in the CO group than in the DP group. CONCLUSIONS: The CO has similar results to DP in the surgical management of unstable severe SCFE. LEVEL OF EVIDENCE: III; retrospective comparative study.

Medium to long term functional and radiographic outcomes in patients with Madelung's deformity treated by isolated or combined radioulnar osteotomy.

INTRODUCTION: Madelung's deformity is a rare congenital condition of the wrist that can cause pain, aesthetic concerns, reduced range of motion and grip strength. Currently, there is no consensus on the optimal age for surgery or whether operative procedures can be isolated or combined depending on the extent of the deformity. The main objective of our study was to analyze the postoperative functional clinical results at a minimum of 3-years follow-up in patients operated on for Madelung's deformity. The secondary objectives were (1) comparison of preoperative and postoperative radiographic parameters, and (2) to assess whether certain preoperative radiographic parameters influence the choice of surgical procedure. HYPOTHESIS: The surgery offered at our center achieves clinical and radiological result necessary for long-term activities of daily living, and varies according to the severity of the distal radial deformity. PATIENTS AND METHODS: We carried out a retrospective observational monocentric study including patients operated on between 2004 and 2016. Clinical (VAS, mobility), functional (PRWE score), and radiographic assessments were performed before and after the last follow-up. RESULTS: The study included 11 patients (12 wrists) with a mean age of 17±7.3 years and a mean follow-up of 8.1 years (4-12.3). The mean VAS was 2.3 (0-6) and the mean PRWE score was 37 (0-108). The mean flexion-extension arc was 134° and that of pronation and supination was 142°. The mean grip strength was 25.8±11.8kg. Four out of 6 radiographic criteria were significantly improved. An isolated radial osteotomy or combined radioulnar osteotomy was performed when the sagittal radial tilt was greater than 30° and protrusion of the lunate greater than 5mm, otherwise below these values, an isolated ulnar osteotomy was performed. DISCUSSION: Our center offers surgical management of Madelung's deformity by osteotomy which improves the majority of postoperative radiographic parameters and gives satisfactory clinical and radiographic results after a mean follow-up of 8.1 years. The surgery is influenced by the severity of the distal radial deformity, including protrusion of the lunate and sagittal radial tilt. LEVEL OF EVIDENCE: IV, Retrospective study.

Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib.

PIK3CA-related overgrowth spectrum (PROS) includes rare genetic conditions due to gain-of-function mutations in the PIK3CA gene. There is no approved medical therapy for patients with PROS, and alpelisib, an approved PIK3CA inhibitor in oncology, showed promising results in preclinical models and in patients. Here, we report for the first time the outcome of two infants with PROS having life-threatening conditions treated with alpelisib (25 mg) and monitored with pharmacokinetics. Patient 1 was an 8-mo-old girl with voluminous vascular malformation. Patient 2 was a 9-mo-old boy presenting with asymmetrical body overgrowth and right hemimegalencephaly with West syndrome. After 12 mo of follow-up, alpelisib treatment was associated with improvement in signs and symptoms, morphological lesions and vascular anomalies in the two patients. No adverse events were reported during the study. In this case series, pharmacological inhibition of PIK3CA with low-dose alpelisib was feasible and associated with clinical improvements, including a smaller size of associated complex tissue malformations and good tolerability.

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. There was a single case of bar displacement (2.78%; 95% CI: 0.07-14.53). Bar stability was comparable to literature reports; but the present technique avoided the complications potentially incurred by use of metal wire, pericostal fixation points and stabilizers.

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.

Holt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the association of congenital heart defect (CHD), with or without rhythm disturbances and radial defects, due to TBX5 variants. The diagnosis is challenged by the variability of expression and the large phenotypic overlap with other conditions, like Okihiro syndrome, TAR syndrome or Fanconi disease. We retrospectively reviewed 212 patients referred for suspicion of HOS between 2002 and 2014, who underwent TBX5 screening. A TBX5 variant has been identified in 78 patients, representing the largest molecular series ever described. In the cohort, 61 met the previously described diagnostic criteria and 17 have been considered with an uncertain HOS diagnosis. A CHD was present in 91% of the patients with a TBX5 variant, atrial septal defects being the most common (61.5%). The genotype-phenotype study highlights the importance of some critical features in HOS: the septal characteristic of the CHD, the bilateral and asymmetric characteristics of the radial defect and the presence of shoulder or elbow mobility defect. Besides, 21 patients presented with an overlapping condition. Among them, 13 had a typical HOS presentation. We discuss the strategies that could be adopted to improve the molecular delineation of the remaining typical patients.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Split-hand-split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500-25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malformations, or syndromic. The mode of inheritance is mostly autosomal dominant with incomplete penetrance, but can be X-linked or autosomal recessive. Seven loci are currently known: SHFM1 at 7q21.2q22.1 (DLX5 gene), SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27 (TP63 gene), SHFM5 at 2q31 and SHFM6 as a result of variants in WNT10B (chromosome 12q13). Duplications at 17p13.3 are seen in SHFM when isolated or associated with long bone deficiency. Tandem genomic duplications at chromosome 10q24 involving at least the DACTYLIN gene are associated with SHFM3. No point variant in any of the genes residing within the region has been identified so far, but duplication of exon 1 of the BTRC gene may explain the phenotype, with likely complex alterations of gene regulation mechanisms that would impair limb morphogenesis. We report on 32 new index cases identified by array-CGH and/or by qPCR, including some prenatal ones, leading to termination for the most severe. Twenty-two cases were presenting with SHFM and 7 with monodactyly only. Three had an overlapping phenotype. Additional findings were identified in 5 (renal dysplasia, cutis aplasia, hypogonadism and agenesis of corpus callosum with hydrocephalus). We present their clinical and radiological findings and review the literature on this rearrangement that seems to be one of the most frequent cause of SHFM.

[Fibrosarcoma in children and adolescents: different entities for the same name]. / Les « fibrosarcomes ¼ de l'enfant et de l'adolescent : un même nom pour différentes entités.

Fibrosarcomas (FS) are rare malignant tumors in pediatrics, classified in the heterogeneous non-rhabdomyosarcomas group of malignant mesenchymal tumors. Infantile FS are found typically in children less than 2 years of age, and include congenital FS usually occurring in infants in the first 3 months of life. Histological diagnosis can be difficult; and confirmed with detection by molecular biology of the ETV6-NTRK3 fusion protein. FS is most often a localized disease at diagnosis, with involvement of an extremity. The management of these patients must be multidisciplinary, to define the different phases of treatment and avoid mutilating surgery. Cellular or atypical mesoblastic nephroma (MN) is a subtype of malignant pediatric renal tumors, most often present in children of less than 3 months. Histopathological characteristics of the cellular MN are very close to the congenital FS due to a fusion transcript common to both diseases. Treatment schedule is defined by initial local stage of the disease. FS called "adult-type" found exceptionally in childhood occur most often after 10 years old. Adult FS differ from infantile FS in their clinical presentation because of a strong local aggressiveness and problematic appearance of metastasis in 50% of cases, sometimes late. These three diseases present therefore histological similarities. Both have a common name but different clinical presentation and outcome: infantile FS and adult FS. Two have different names and initial location but similar histology, chromosomal rearrangement, sensitivity to chemotherapy and outcome: the congenital FS and cellular mesoblatic nephroma. Authors present a review of the literature of these entities.