Operative management of sacroiliac joint dislocation in children with unstable pelvic fractures - A STROBE-compliant investigation.

Objective: Injuries involving severe spinal axial loading may be accompanied by sacroiliac joint dislocations. In children, these injuries are relatively rare, and there is little information on their optimal management in young patients. We conducted a multicentre study to investigate the outcome of surgical treatment of unstable pelvic fracture with sacroiliac joint dislocation in children. Patients & methods: We assessed the quality of surgical reduction and functional outcome at follow-up in 7 patients (5 girls, 2 boys) with a median age of 6.4 years (range: 4.2-14.8 years). Patients with pelvic fractures and sacroiliac joint dislocations were treated at four international paediatric level 1 trauma centres between January 2008 and August 2023. We applied the Matta criteria to assess the quality of fracture reduction and graded the functional follow-up results using adjusted Majeed score. Results: At follow-up, 3 patients showed excellent fracture reduction, with 2 patients showing good reduction and 2 patients exhibiting fair fracture reduction according to the Matta criteria. At follow-up visits at a median of 12 months (range: 3-84 months) after the injury, patients achieved a median adjusted Majeed score of 76 (range: 63 to 76). Conclusions: Unstable pelvic injuries with sacroiliac joint dislocation without comminution can be stabilised with a single iliosacral screw in children. Comminuted pelvic fractures with unstable sacroiliac dislocation require stabilisation with lateral compression screws or plates. In case of residual pelvic instability after internal fixation, an additional external fixator or pelvic hammock should be applied to optimize the stability of fixation.

Seat belt syndrome with caecal perforation and Chance fracture in an adolescent.

Seat belt syndrome describes a combination of injuries a person restrained by a seat belt may have after a high-velocity motor vehicle crash. A seat belt-shaped bruise may be present across the torso. A Chance fracture is a horizontal vertebral fracture, resulting from spinal hyperflexion, and in disruption of the three columns of the vertebral bodies. Its association with intra-abdominal injury is rare in children. A male, in early adolescence, was involved in a high-energy car crash. A total-body CT scan highlighted lacerations of the anterolateral abdominal wall and an acute L4 Chance fracture. Another CT scan performed because of clinical deterioration, showed cecal perforation, caused by a mesenteric tear and non-displaced fracture of the left sacral ala. He underwent a right hemicolectomy with ileocolic anastomosis and protective ileostomy and was immobilised in a body jacket orthosis for 3 months. The ileostomy was closed 3 months later. At 2-year follow-up, he is well.

MAST1-related mega-corpus-callosum syndrome with central hypogonadism.

OBJECTIVE: Heterozygous variations in microtubule-associated serine/threonine kinase 1 gene (MAST1) were recently described in the mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM, MIM 618273), revealing the importance of the MAST genes family in global brain development. To date, patients with MAST1 gene mutations were mostly young children with central nervous system involvement, impaired motor function, speech delay, and brain magnetic resonance imaging (MRI) abnormalities. Here, we report the clinical presentation of an adult patient with a rare and de novo MAST1 mutation with central hypogonadism that could extend this phenotype. METHODS: A panel of 333 genes involved in epilepsy or cortical development was sequenced in the described patient. Routine biochemical analyses were performed, and hormonal status was investigated. RESULT: We report a 22-year-old man with a de novo, heterozygous missense variant in MAST1 (Chr19(GRCh37):g.12975903G > A, NP_055790.1:p.Gly517Ser). He presented with an epileptic encephalopathy associated with cerebral malformations, short stature, hypogonadotropic hypogonadism, and secondary osteopenia. CONCLUSION: This is the first patient with MAST1 gene mutation described with central hypogonadism, which may be associated with the phenotype of MCCCHCM syndrome.

The Gigli saw, a useful tool for cutting a metal ring causing penile strangulation.

Penile strangulation is a rare pediatric urology emergency. A 13-year-old boy with no psychiatric history was referred to the university hospital 2 h after a metallic ring was self-placed over his penis. Under general anesthesia, a Gigli saw cut the cockring in two places. The patient was discharged home on postoperative day 1. He neither attended a consultation at the one-month follow-up nor saw a psychiatrist. Thirteen similar cases have been reported in children since 1975. We were the first team to use a Gigli saw in a child in our department.

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. They had to have reached the end of the procedure (graduate). RESULTS: A total of 90 graduate patients were included. The mean follow-up time over the entire period was 66 months (25.3-109). Of these, only 66 patients (73.3%) underwent definitive spinal arthrodesis at the end of the lengthening phase, whereas 24 patients (26.7%) kept their hardware in situ with a mean follow-up time from the last lengthening of 25 months (3-68). Patients had an average of 2.6 surgeries (1-5) over the entire follow-up. Patients had an average of 7.9 lengthenings for a mean total lengthening of 26.9 mm (4-75). Analysis of the radiological parameters showed a percentage reduction in the main curve of 12 to 40%, depending on the etiology, with an average reduction of 73-44°, and an average thoracic height of 210 mm (171-214) for an average improvement of 31 mm (23-43). There was no significant difference in the sagittal parameters. During the lengthening phase, there were a total of 56 complications in 43 patients (43.9%; n = 56/98), of which 39 in 28 patients (28.6%) resulted in unplanned surgery. In the graduate patients, there were a total of 26 complications in 20 patients (22.2%), all of which resulted in unscheduled surgery. CONCLUSION: MCGR, allow to decrease the number of surgeries, to progressively improve the scoliotic deformity and to reach a satisfactory thoracic height at the price of an important complication rate linked in particular to the complexity of the management of patients with an EOS.

Preliminary Results of Bone Lengthening over Telescopic Titanium Intramedullary Rod.

Background: Limb lengthening and deformity correction in patients with abnormal bone associating fragility often require an approach combining methods of external and internal fixation. This study demonstrates results of simultaneous application of external fixator, and telescopic rod for femoral lengthening and deformity correction in three children with osteogenesis imperfecta or severe form of Ollier's disease. Materials and Methods: Three patients (two boys with Ollier's disease and a girl with osteogenesis imperfecta, type I) were operated on for femoral lengthening with combined technique associating Ilizarov frame and titanium telescopic intramedullary rodding. Results: Planned amount of lengthening and deformity correction were achieved for all patients. We found neither rod bending nor pull out of threaded tips. There was no difficulty of expanding of telescopic intramedullary rods made of titanium alloy during distraction phase of lengthening procedure. Conclusion: This short series proved feasibility of performing one-stage surgery with external frame and telescopic rodding in limb lengthening. The technique of telescopic rods in lengthening procedure is promising method requiring meticulous insertion of rod in centralized positioning in epiphysis. Acute alignment of the segment been elongating should be achieved at surgery. No any progressive angular deformity correction in postoperative period is authorized in order to avoid bending of telescopic rod. This combined approach does not affect bone healing.

Simultaneous multisegmental and multifocal corrections of complex lower limb deformities with a hexapod external fixator.

INTRODUCTION: External fixators are a part of the therapeutic arsenal used in the correction of complex pediatric lower limb deformities. These long iterative procedures, which are commonly performed over several months, strongly impact the lives of these children and their families. To reduce these drawbacks, we perform, whenever possible, a simultaneous multisegmental and/or multifocal correction of these deformities. HYPOTHESIS: Simultaneous multilevel correction of complex pediatric deformities using external fixators does not result in more complications than sequential corrections. MATERIALS AND METHODS: Sixteen patients were treated with this hexapod external fixator correction procedure. The mean age was 13.9 years. The corrections involved 12 femurs and 20 tibias, representing 53 osteotomies on 23 limbs. The quality of the correction was assessed by measuring the mechanical axis deviation (MAD), residual limb length discrepancy (RLLD) and a new, specifically defined, criterion called the "angular healing index" (AHI). Complications were assessed according to Lascombes' classification. RESULTS: The mean MAD went from 30 to 13.5 mm (P<.05) and the mean RLLD from 33.2 to 6.9 mm (P<.05). The mean AHI was 74.1 days/cm (16.7 to 319). The overall complication rate was 13/23 operated limbs or 56.5% (4.3% grade 1, 43.3% grade 2, 9.3% grade 3, and no grade 4). DISCUSSION: One-stage multilevel corrections of complex pediatric lower limb deformities represent a difficult technical challenge, and any reduction in treatment time must not adversely impact the quality of the results. The rate and severity of complications compared to monofocal/segmental procedures were no higher than that reported in the literature. This study demonstrated the feasibility of multisegmental and multifocal corrections, which reduced the total treatment duration compared to successive corrections, without adversely affecting the result or increasing the complication rate. LEVEL OF EVIDENCE: IV; retrospective study.

Index Finger Pollicization Incisions for Congenital Thumb Aplasia: Review and Design of an Educational Anatomical Model for Skin Incisions.

BACKGROUND: Pollicization of the index finger can be considered the gold standard technique for the treatment of congenital thumb aplasia. The aim of this study was to review the described incisions for pollicization and to create an anatomical framework enabling the study and comparison of these incisions. METHODS: A systematic review was performed to collect descriptions of incision sets. An anatomical model was created from the two upper limbs of the same cadaver. Thumb aplasia was modeled on both hands of this cadaver by severing the thumbs; an index finger pollicization was performed on one of the two hands. Comparative analysis of scar positions, first web size, and neothumb aspect of each incision set was conducted using a surgical glove modeling the skin. The glove was fitted onto the aplastic model to draw the incisions and then onto the pollicized hand to adjust the resulting flaps after cutting. RESULTS: Twelve articles, two textbooks, and one DVD were included in the review, either containing an original description of incisions, or describing an incision pattern with figures and references to the initial author. A total of five different incision sets, described by Buck-Gramcko, Blauth, Foucher, Ezaki, and Malek, were identified and compared using the anatomical model. CONCLUSIONS: This work summarizes five original incisions described for index pollicization in thumb aplasia and presents a standardized and reliable model to study and compare these different sets. The model can be used for educational purposes, either to teach or to optimize an incision set.

Louis Ombrédanne, a founding member of SICOT.

This paper describes the life and work of Louis Ombrédanne, one of the founding fathers of the SICOT, a notorious French orthopaedic and paediatric surgeon with a strong interest in plastic surgery and reconstruction of post-traumatic defects and also with limb lengthening and treatment of sequalae. Born in Paris in 1871 as a son of a general practitioner doctor, Ombrédanne was a brilliant student enjoying anatomy and surgery since the early years. He was appointed as a Surgeon in 1902 in Paris and became Professor of Surgery in 1907. During the First World War, he worked in Verdun, one of the most exposed hospitals near the battlefield where over 700.000 people died and many cases were affected by head and neck burns and destructions, requiring surgical reconstruction. After the war, Ombrédanne developed Pediatric Surgery and it seems that his powerful drive and charisma explain why these specialties are studied together with orthopaedics in Europe and later in the World. Many innovations like the anaesthetic inhaler with face mask were authored by Ombrédanne and also techniques of limb lengthening, thoracic plasty. He described malignant hyperthermia in children and worked in the Sick Children Hospital in Paris, today Hôpital Necker. In 1929, Ombrédanne participated with a group of enthusiastic surgeons and teachers from many countries to the creation of SICOT during a historical meeting held in Hotel Crillon in Paris. This paper introduces Ombrédanne's work to the current readers and is a tribute to the work of our ancestors who made possible the development of our specialty.

Epidemiology of spinal fractures in children: Cross-sectional study.

INTRODUCTION: Epidemiological studies of fractures of the spine in children are all old, mostly single-centre, with series spanning periods of 5 to 20 years. HYPOTHESIS: As lifestyle is constantly changing, notably with an increase in sports activities and improvements in the prevention of road and household accidents, epidemiology has likely changed. OBJECTIVE: To update the description of spinal trauma in children and adolescents compared to the existing literature. MATERIAL AND METHOD: A multicentre cross-sectional study of spinal fracture, dislocation and spinal cord injury without radiological abnormality (SCIWORA) in children was carried out in 15 French university hospital centres, for a period of one year (2016). RESULTS: One hundred and sixty-five children were identified: 85 girls, 80 boys; mean age 11 years (range, 10 months-17 years); median, 12 years 6 months. One hundred and fifty-two children (92%) had fracture, 8 (5%) dislocation (including 7 C1-C2 rotary dislocations), and 5 (3%) SCIWORA. Fractures were multiple in 80 cases (49%), contiguous in 73 cases (91%) and non-contiguous in 7 (9%). Locations were cervical in 25 cases (15%), thoracic in 85 (52%), lumbar in 75 and sacral in 4 (2%). Fracture types comprised 234 vertebral compactions (78%), 25 burst fractures (8%), 5 chance fractures (2%), 2 odontoid fractures, and 33 other lesions. Causes comprised fall in 77 cases (47%), sports accidents in 56 (34%), road accidents in 29 (18%), and others in 3. In 52 cases (32%), there was ≥1 associated lesion: appendicular in 35 cases (67%), thoracic or abdominal in 31 (60%), and head in 16 (31%). Twenty-one cases had multiple lesions (40%). Eighteen cases showed neurological involvement (11%) including 5 SCIWORAs. Neurological complications were more frequent before 9 years of age. CONCLUSION: The epidemiology of spine fractures in children has slightly changed. There are now fewer cervical lesions. Causes are less often road accidents and more often sports accidents. Multi-level lesions remain frequent and the rate of neurological complications is around 10%. Compaction fracture is the most common type.

Prognostic factors for intramedullary nailing in radial neck fracture in children.

INTRODUCTION: Radial fracture accounts for 1% of fractures in children. It is potentially serious, and treatment is controversial. Several studies assessed prognostic factors, only one of which used exclusive intramedullary nailing, despite this being the gold standard. HYPOTHESIS: Open surgery provides poor functional results in radial neck fracture. MATERIAL AND METHOD: All patients undergoing reduction and internal fixation of radial neck fracture between 2005 and 2015 were analysed. Inclusion criteria comprised Jeffery type 1 fracture with open growth plate, complete file, and ≥1 year's follow-up. Treatment systematically comprised Métaizeau intramedullary nailing, with crossover to open reduction only in case of failure. Good results were defined as full range of motion and pain-free elbow. RESULTS: Fifty-six patients were included: 33 girls, 23 boys; mean age, 9 years. On the Judet classification modified by Métaizeau, 4 fractures were grade 2, 29 grade 3, 15 grade 4A and 8 grade 4B. Closed reduction was performed in 48 cases, including 8 with the help of percutaneous leverage effect. Eight required a surgical approach. Twenty-three showed postoperative reduction defect. At a mean 74 months' follow-up, at a mean age of 15 years, 37 patients had reached full skeletal maturity. Sixteen had poor results. Open reduction was associated with poor outcome (p<0.01). Age, initial epiphyseal tilt, associated lesions, immobilisation time, time to nail removal and residual tilt after reduction did not significantly affect outcome (p-values>0.05). Percutaneous leverage effect had no impact on the quality of results (p=1). DISCUSSION: Open reduction is to be avoided in radial neck fracture. A prospective study is needed to assess remodelling potential according to age. LEVEL OF EVIDENCE: IV, retrospective study.

Madelung's deformity in children: Clinical and radiological results from a French national multicentre retrospective study.

INTRODUCTION: Madelung's deformity is rare. Treatment often consists in radial or ulnar osteotomy, Vickers' ligament resection or ulnar epiphysiodesis. The present multicenter retrospective study reports clinical and radiographic results in various surgeries. The study hypothesis was that early surgery improves outcome. MATERIAL AND METHOD: Files were analyzed for 36 children (47 wrists) operated on between 1998 and 2015. Mean age at diagnosis was 12 years (range, 6-15 years). Mean follow-up was 7.2 years (range, 2-17.4 years). Two age groups were distinguished: 6-11 and 12-17 years. Endpoints were esthetic, functional (Mayo Wrist Score: MWS) and radiographic [lunate fossa angle (LFA), radial height (RH), lunatum cover rate (LCR), ulnar head translation (UHT), lunatum ascension (LA)]. Techniques mainly comprised distal radius osteotomy (DRO) with ulnar shortening osteotomy (USO), and Vickers' ligament resection (VR), either isolated or associated to osteotomy. RESULTS: Age at surgery guided choice of technique, but did not impact results. VR gave better functional results when performed in young children; it was mainly performed in the 6-11 years age group, providing very satisfactory results (7 out of 8 wrists) with excellent function (7 out of 8), without improving radiographic parameters; in the 12-17 years age group, even when esthetic results were excellent, functional results were only good-to-acceptable (3 out of 5 wrists) and 1 result was poor. DRO+USO was mainly performed in the 12-17 years age group, with very satisfactory or satisfactory results (8 out of 10 wrists) and excellent function (6 out of 10). DRO+USO appeared to be an option of choice, significantly improving radiographic parameters and correcting the deformity (24.5° improvement in LFA (p=0.0033) and 36.2% improvement in LCR (p=0.0103)). DRO+USO+VR was mainly implemented in the 12-17 years age group, with very satisfactory results (3 out of 4 wrists) and excellent-to-good MWS in most cases (3 out of 4), but without significant radiographic improvement. DISCUSSION: Esthetic and functional results were comparable regardless of age, except for VR, which gave better functional results in the 6-11 years age group, but without significant difference. CONCLUSION: The present study showed that, regardless of children's age, surgery provided esthetic, functional and radiographic benefit, although no decision-tree could be drawn up. LEVEL OF EVIDENCE: IV.

Lower limb lengthening and deformity correction in polyostotic fibrous dysplasia using external fixation and flexible intramedullary nailing.

The study describes preliminary experience of the use of external fixators for limb lengthening and deformity correction in combination with flexible intramedullary nailing in management of polyostotic fibrous dysplasia. PATIENTS AND METHODS: The retrospective study included 8 patients (mean age 11.6 ± 3.38 years; range 7-17 years) with polyostotic fibrous dysplasia operated on using external circular frame and flexible intramedullary nailing. Mean follow-up was 2.6 years. Surgical technique consisted of percutaneous osteotomy of a segment and application of circular external frame. The intramedullary nailing was done using two bent nails. Hydroxyapatite-coated nails were applied in three patients; five patients had titanium nails. Amount of lengthening (cm and %), amount of deformity correction, duration of external fixator use, index of external fixation, "nail/medullary canal at narrowest site" ratio, "nail-medullary canal at osteotomy site" ratio were analyzed. Results and complications were assessed according to Lascombes's classification. RESULTS: The mean amount of lengthening was 4.5 cm (or 13.7 ± 6.0% per segment). This gave a mean external fixation index of 32.5 ± 13.97 days/cm. The mean ratio of IM nail diameter/medullary canal diameter at the narrowest site was 0.22 ± 0.07 (range, 0.125-0.3 mm). No migration of IM nails into medullary canal were noticed. But in one case there was external migration of Ti-nail. In a year after frame removal, the results of treatment were classified as grade I in 7 cases and IIb in one case.At the latest follow-up control, mechanical axis deviation was found within normal limits in six patients. Two patients had excessive MAD of 11 and 28 mm. In the first case a partial varus deformity recurrence occurred at middle shaft site where a large dysplastic zone was presented. In the second case, a specific shepherd's crook deformity developed and caused excessive MAD. Mean lower limb length discrepancy varied from 1 to 15 mm. CONCLUSION: There are advantages of using elastic intramedullary nailing and external fixation in the treatment of limb length discrepancy and deformity of long bones in patients with PFD. This strategy ensures reduced external fixation time and high accuracy of alignment. Intramedullary nails left in situ, especially nails with HA-coating, seem to prevent deformity recurrence and stimulate remodeling in dysplastic fibrous zones.

Update on guided growth concepts around the knee in children.

Guided growth is part of the surgical armamentarium for limb-length discrepancy or axial deformity. It is an old concept, with several apparently conflicting techniques that are in fact usually complementary. Depending on whether the aim is to slow or arrest growth, to treat length discrepancy or axial deviation, techniques differ and the choice is partly determined by the indication. It is thus essential to know the technical details for each: temporary or definitive, complete or asymmetric, with or without implant. Considerations of fashion and personal habits may outweigh basic principles, and it is important to go back to the princeps descriptions: the Phemister, Bowen, Blount, Métaizeau and Stevens techniques and others all have their surgical specificities Apart from surgery itself, he indication and choice of technique depend on the patient's age and whether the abnormality to be treated is isolated or part of a wider syndrome, all of this being included in a precise strategy based on planning calculations that are indispensable ahead of any surgery. Guided growth can also be implemented elsewhere than in the limbs: wrist, ankle, or even hip; and it is beginning to be possible to correct sagittal and rotational deformities. All of this is furthermore achievable using emerging techniques that are less invasive, are reversible, and show equal efficacy.

Intra-medullary osteosclerosis of the tibia in children.

BACKGROUND: Intra-medullary osteosclerosis of the tibia is a rare condition characterised by chronic pain due to diaphyseal hyperostosis with no detectable triggering factor. The main differential diagnoses are stress fracture and osteoid osteoma. Of the few cases reported to date, most were in adults. The objective of this study was to assess paediatric patients with intra-medullary osteosclerosis to determine whether the first visit provides sufficient information to establish the diagnosis and rule out both osteoid osteoma and stress fracture, whether a biopsy is required, and which treatment is optimal. HYPOTHESIS: The diagnosis of intra-medullary osteosclerosis of the tibia can be made at the first visit. PATIENTS AND METHODS: Seven paediatric patients, 4 males and 3 females, with a mean age of 11 years, were included in this retrospective study. We evaluated the clinical features, findings from imaging studies (standard radiographs, computed tomography, magnetic resonance imaging, and bone scintigraphy), and treatment outcomes. RESULTS: At the first visit, all patients had a painful swelling at the middle of the shin and imaging study evidence of antero-lateral tibial cortical thickening extending into the medullary cavity; in 5 patients, a linear lucency was visible. No other bone abnormalities were seen. Treatments included non-operative measures, pinning, and nailing. None of these treatments provided permanent bone healing or pain relief, although transitory freedom from pain with or without radiological bone healing was achieved. DISCUSSION: Intra-medullary osteosclerosis of the tibia is rarely reported and therefore probably underdiagnosed. Distinctive characteristics of the cortical and endosteal thickening include location at the antero-lateral mid-diaphysis and, in some cases, the concomitant presence of a linear lucency that can provide the early diagnosis. The distinctive radiological features allow differentiation from a stress fracture. The management is challenging. LEVEL OF EVIDENCE: IV, retrospective observational study.

Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion.

Growth impairment together with bone and joint involvement is common to most patients with mucopolysaccharidosis (MPS) disorders. The genetic basis for these metabolic disorders involves various enzyme deficiencies responsible for the catabolism of glycosaminoglycans (GAGs). The incomplete degradation and subsequent accumulation of GAGs result in progressive tissue damage throughout the body. Bone ossification is particularly affected, with the consequent onset of dysostosis multiplex which is the underlying cause of short stature. Joint manifestations, whether joint contractures (MPS I, II, VI, VII) or hyperlaxity (MPS IV), affect fine motor skills and quality of life. Subtle decreases in growth velocity can begin as early as 2-4 years of age. Pediatricians are in the front line to recognize or suspect MPS. However, given the rarity of the disorders and variable ages of symptom onset depending on disease severity, recognition and diagnostic delays remain a challenge, especially for the attenuated forms. Prompt diagnosis and treatment can prevent irreversible disease outcomes.Conclusion: We present a diagnostic algorithm based on growth velocity decline and bone and joint involvement designed to help pediatricians recognize early manifestations of attenuated forms of MPS. We illustrate the paper with examples of abnormal growth curves and subtle radiographic nuances. What is Known: • As mucopolysaccharidoses (MPSs) are rare genetic disorders infrequently seen in clinical practice, there can be a lag between symptom onset and diagnosis, especially of attenuated forms of the disease. • This highlights the need for increased disease awareness to recognize early clinical signs and subsequently initiate early treatment to improve outcomes (normal height potential) and possibly prevent or delay the development of irreversible disease manifestations. What is New: • Growth impairment co-presenting with limited range of joint motion and radiographic anomalies in children should raise suspicions of possible attenuated MPS (AMPS). • Experts present a diagnostic algorithm with detailed focus on the decline in growth velocity, delayed puberty and limitation in joint mobility seen in children with AMPS, to shorten time-to-diagnosis and treatment and potentially improve patient outcome.

Bone maturation of MRI residual developmental dysplasia of the hip with discrepancy between osseous and cartilaginous acetabular index.

Quality of spontaneous amelioration of residual developmental dysplasia of the hip (DDH) is nowadays not possible to predict. Normal age-related values of the osseous acetabular index (OAI), cartilaginous acetabular index and labral acetabular index have been established on MRI. In this study, MRI of dysplastic hips has been evaluated, and further osseous acetabular maturation was followed-up over time on pelvic radiography to find a correlation between MRI findings and radiological evolution. This is a retrospective single-centre study. Children with DDH who had a pelvic MRI between February 2007 and June 2014 were included. AI was measured for osseous (OAI), cartilaginous (cartilaginous acetabular index) and labral (labral acetabular index) values on MRI. OAI was thereafter recorded on each available radiograph during follow-up. A total of 20 hips were included. The mean age at MRI diagnosis was 3.55 years. Two types of DDH were observed: harmonious dysplasia, associated with an osseous and cartilaginous defect (group A, n = 14), and divergent dysplasia, associated with an osseous defect but with sufficient cartilaginous coverage (group B, n = 6). The mean age at final radiological follow-up was 7.6 and 8.3 years (P = 0.7408), respectively. In group A, four (28.6%) children older than 6 years had an OAI of less than 18°, whereas only two (33.3%) children older than 6 years had an OAI less than 18° in group B (P = 0.0117). This study shows that, in one-third of cases, divergent dysplasia leads to a spontaneous recovery. MRI should be used early to accurately diagnose and follow-up DDH cases and allow surgeons to justify the required surgical treatment. Level of Evidence: IV.

Is the Clavicula Pro Humero Technique of Value for Reconstruction After Resection of the Proximal Humerus in Children?

BACKGROUND: There are several options for reconstruction of proximal humerus resections after wide resection for malignant tumors in children. The clavicula pro humero technique is a biologic option that has been used in the past, but there are only scant case reports and small series that comment on the results of the procedure. Because the longevity of children mandates a reconstruction with potential longevity not likely to be achieved by other techniques, the clavicula pro humero technique may be a potential option in selected patients. QUESTIONS/PURPOSES: (1) How successful is the clavicula pro humero procedure in achieving local tumor control? (2) What is the frequency of nonunion? (3) What are the complications of the procedure? (4) What scores do patients achieve (on the Musculoskeletal Tumor Society (MSTS) and the Toronto Extremity Salvage Score (TESS) after this procedure? METHODS: Four university hospitals performed the clavicula pro humero technique in eight children aged 8 to 18 years between June 2006 and February 2014. During that period, general indications for this approach included all reconstructions of the proximal humerus for malignant tumors in children older than 8 years. All patients were followed for a mean of 40 months (range, 25-86 months); one patient was lost to followup before 2 years. The tumor resections removed the rotator cuff muscles in all patients, glenohumeral joint in five, and deltoid muscle in three. The median length of the bone defect after resection was 20 cm (range, 7-25 cm). It was reduced to 9 cm (range, 0-17 cm) or 27% (range, 0%-64%) of the total humerus length after clavicular rotation. Direct osteosynthesis (one patient), induced membrane technique (one patient), or vascularized fibular autograft (six patients) was used to complete the defect after rotation of the clavicle if necessary. Presence of union (defined as bone healing before 10 months, as assessed by disappearance of the osteotomy on AP and lateral view radiographs), and complications were determined by chart review performed by a surgeon not involved in patient care. Function assessed by the MSTS and the TESS scores were determined by the patients with their families. RESULTS: None of the patients had tumor recurrence. One patient died of pulmonary metastases before the 2-year followup. Proximal and distal bone unions were achieved before 10 months without an additional surgical procedure in two and six of seven patients, respectively. Fourteen local complications occurred resulting in nine revision operations. The main complication was aseptic proximal pseudarthrosis (five patients); other complications included one proximal junction fracture, one clavicle fracture complicated by clavicle osteolysis, one distal junction fracture, one necrosis of the skin paddle of the fibular autograft, one glenoclavicular ossification, and one distal pseudarthrosis complicated by a fracture of this distal junction. Function, as assessed by the MSTS score, was a median of 23 of 30 (range, 11-27). The median TESS score was 82% (range, 75%-92%). Shoulder ROM (median; range) in abduction, front elevation, and external and internal rotations were 70°(30°-90°), 75°(30°-85°), 10°(0°-20°), and 80°(80°-100°), respectively. Three of the seven patients reported dissatisfaction with the cosmetic appearance. CONCLUSIONS: The clavicula pro humero technique achieved oncologic local control after resection and reconstruction of proximal humerus tumors in children. Although union times are approximately 2 years and some patients underwent augmentation with other grafts, it eventually provides a solid, painless, biologic, and stable reconstruction and creates a mobile acromioclavicular joint and generally good function. Nonunion of the proximal junction is the main complication of this technique. We cannot directly compare this technique with other reconstruction options, and longer followup is needed, but this may be a useful reconstruction option to consider in select pediatric patients with sarcomas of the proximal humerus. LEVEL OF EVIDENCE: Level IV, therapeutic study.

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

Vitamin D requires a two-step activation by hydroxylation: The first step is catalyzed by hepatic 25-hydroxylase (CYP2R1, 11p15.2) and the second one is catalyzed by renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of 1,25-(OH)2 D. Mutations of CYP2R1 have been associated with vitamin D-dependent rickets type 1B (VDDR1B), a very rare condition that has only been reported to affect 4 families to date. We describe 7 patients from 2 unrelated families who presented with homozygous loss-of-function mutations of CYP2R1. Heterozygous mutations were present in their normal parents. We identified a new c.124_138delinsCGG (p.Gly42_Leu46delinsArg) variation and the previously published c.296T>C (p.Leu99Pro) mutation. Functional in vitro studies confirmed loss-of-function enzymatic activity in both cases. We discuss the difficulties in establishing the correct diagnosis and the specific biochemical pattern, namely, very low 25-OH-D suggestive of classical vitamin D deficiency, in the face of normal/high concentrations of 1,25-(OH)2 D. Siblings exhibited the three stages of rickets based on biochemical and radiographic findings. Interestingly, adult patients were able to maintain normal mineral metabolism without vitamin D supplementation. One index case presented with a partial improvement with 1alfa-hydroxyvitamin D3 or alfacalcidol (1α-OH-D3 ) treatment, and we observed a dramatic increase in the 1,25-(OH)2 D serum concentration, which indicated the role of accessory 25-hydroxylase enzymes. Lastly, in patients who received calcifediol (25-OH-D3 ), we documented normal 24-hydroxylase activity (CYP24A1). For the first time, and according to the concept of personalized medicine, we demonstrate dramatic improvements in patients who were given 25-OH-D therapy (clinical symptoms, biochemical data, and bone densitometry). In conclusion, the current study further expands the CYP2R1 mutation spectrum. We note that VDDR1B could be easily mistaken for classical vitamin D deficiency. © 2017 American Society for Bone and Mineral Research.

Current approaches to flexible intramedullary nailing for bone lengthening in children.

Limb-length discrepancies and extremity deformities are among the most common non-traumatic orthopaedic conditions for which children are hospitalised. There is a need to develop new treatment options for lower-limb length discrepancy in order to ameliorate treatment outcomes, avoid or reduce rates of complication and provide early rehabilitation. The authors report on the basic principles, experimental and clinical data, advantages, problems and complications of a combined technique associating the Ilizarov method and flexible intramedullary nailing (FIN) in limb lengthening and deformity correction in children. They describe features of the use of hydroxyapatite-coated intramedullary nails in patients with certain metabolic bone disorders and in cases where bone consolidation has been compromised. The advantages of bone lengthening using a combined technique (circular fixator plus FIN) are a lower healing index, quicker distraction-consolidation, a reduced rate of septic and bone complications, the ability to correct deformities gradually and the increased stability of bone fragments during the external fixation period and after frame removal.