Congenital dislocation of the hip: Optimal screening strategies in 2014

AbstractA 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. The usefulness of routine ultrasound screening has not been established. The findings from this study have been used by the authors and French National Health Authority (Haute Autorité de Santé [HAS]) to develop recommendations about CDH screening. There is an urgent need for a prospective randomised multi-centre nationwide study, which should involve primary-care physicians

Brachial plexus birth palsy shoulder deformity treatment using subscapularis release combined to tendons transfer

SummaryIntroductionOne possible sequela of obstetric brachial plexus palsy (OP) is impaired external rotation (ER) of the shoulder which, in addition to its functional consequences, can generate a posterior humeral head subluxation or dislocation. The goal of the present study was to assess medium-term clinical and radiological results of release of the subscapularis muscle with transfer of the latissimus dorsi and teres major muscles.Patients and methodsFrom 1985 to 1995, a continuous series of 32 OP patients underwent subscapularis muscle release, associated in 24 cases to muscle transfer. Mean age was 2.5 years (range, 1–9.2 years). Shoulder function was assessed by measurement of passive ER and graded according to the modified Mallet classification at 1, 5 and 10 years’ follow-up or before revision. The evolution of the glenohumeral deformity was assessed on CT images of glenoid retroversion and the humeral head subluxation (% of humeral head covered), before and 5 years after surgery.ResultsMean postoperative follow-up was 9.5±5.6 years. Treatment brought significant improvement in passive ER (mean preoperative and 1-year follow-up values: −10° and 52°, respectively). This explained the good modified Mallet score at 1 year: mean=18.4/25. Subsequent significant progressive degradation was noted: 10 years postoperatively, mean ER amplitude and modified Mallet score were respectively 13° and 15.8. The CT study showed correction of the glenoid retroversion (mean preoperative and 5-year follow-up values: 29° and 18°, respectively), and of the humeral head subluxation (mean preoperative and 5-year follow-up values: 25 and 39%, respectively). Surgical revision was indicated six times (five patients): two latissimus dorsi and teres major transfers (not performed initially) and four derotational humeral osteotomies. Three-quarters of the patients who did not initially have muscle transfer had to be reoperated or else showed ER insufficiency at last follow-up.Discussion and conclusionSurgical treatment produces objective functional gain, even if this diminishes over time. Moreover, it prevents or corrects posterior subluxation of the shoulder. It is indicated when passive ER amplitude is negative. It seems advisable to associate release to muscle transfer.Level of evidenceLevel IV Retrospective study

Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR)

Background: X-linked hypophosphatemic rickets (XLHR) is due to mutations in PHEX leading to unregulated production of FGF23 and hypophosphatemia. XLHR is characterized by leg bowing of variable severity. Phosphate supplements and oral vitamin analogs, partially or, in some cases, fully restore the limb straightness. Surgery is the alternative for severe or residual limb deformities. Objective: To retrospectively assess the results of surgical limb correction in XLHR (osteotomies and bone alignment except for 3 transient hemiepiphysiodesis). Methods: We analyzed the incidence of recurrence and post-surgical complications in 49 XLHR patients (29F, 20M) (mean age at diagnosis 6.0 years (± 7.1)). Results: At first surgery, the mean age was 13.4 years (± 5.0). Recurrence was observed in 14/49 (29%) patients. The number of additional operations significantly decreased with age (2.0 (± 0.9), 1.7 (± 1.0) and 1.2 (± 0.4) in children 15 years; P < 0.001). Incidence of recurrence seemed to be lower in patients with good metabolic control of the rickets (25% vs 33%). Complications were observed in 57% of patients. Conclusion: We report a large series of surgical procedures in XLHR. Our results confirm that phosphate supplements and vitamin D analog therapy is the first line of treatment to correct leg bowing. Surgery before puberty is associated with a high risk of recurrence of the limb deformity. Such procedures should only be recommended, following multidisciplinary discussions, in patients with severe distortion leading to mechanical joint and ligament complications, or for residual deformities once growth plates have fused

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance

Context: Acrodysostosis is a rare skeletal dysplasia that is associated with multiple resistance to G protein-coupled receptor (GPCR) signaling hormones in a subset of patients. Acrodysostosis is genetically heterogeneous because it results from heterozygous mutations in PRKAR1A or PDE4D, two key actors in the GPCR-cAMP-protein kinase A pathway. Objective: Our objective was to identify the phenotypic features that distinguish the two genotypes causing acrodysostosis. Patients and Methods: Sixteen unrelated patients with acrodysostosis underwent a candidate-gene approach and were investigated for phenotypic features. Results: All patients had heterozygous de novo mutations. Fourteen patients carried a PRKAR1A mutation (PRKAR1A patients), five each a novel PRKAR1A mutation (p.Q285R, p.G289E, p.A328V, p.R335L, or p.Q372X), nine the reported PRKAR1A p.R368X mutation; two patients harbored a mutation in PDE4D (PDE4D patients) (one novel mutation, p.A227S; one reported, p.E590A). All PRKAR1A, but none of the PDE4D mutated patients were resistant to PTH and TSH. Two PRKAR1A patients each with a novel mutation presented a specific pattern of brachydactyly. One PDE4D patient presented with acroskyphodysplasia. Additional phenotypic differences included mental retardation in PDE4D patients. In addition, we report the presence of pigmented skin lesions in PRKAR1A and PDE4D patients, a feature not yet described in the acrodysostosis entity. Conclusions: All PRKAR1A and PDE4D patients present similar bone dysplasia characterizing acrodysostosis. Phenotypic differences, including the presence of resistance to GPCR-cAMP signaling hormones in PRKAR1A but not PDE4D patients, indicate phenotype-genotype correlations and highlight the specific contributions of PRKAR1A and PDE4D in cAMP signaling in different tissues

Dynamical asymmetries in idiopathic scoliosis during forward and lateral initiation step

Adolescent idiopathic scoliosis (AIS) is characterized by morphological trunk modifications acting on body mass distribution. Some specific biomechanical strategies during postural regulation have been reported. Given that spinal deformity is three-dimensional, some strategy analysis resulting from different stepping directions should lead to a better understanding of the dynamic adaptation of behaviour. The aim of this study is to identify dynamic strategies of AIS patients stepping in lateral and forward directions. Ten AIS patients with a right thoracic curve and 15 controlled volunteers have been tested. Ground reaction forces (GRF) have been recorded for right-limb stepping and for left-limb stepping associated to forward and lateral directions. Force amplitudes, corresponding occurrences, impulses of stepping phases and an asymmetry index have been computed. Asymmetry and variability increased in the AIS group, compared to the control group, whatever the stepping direction is. Asymmetry for AIS patients systematically provides an increased left initiation GRF compared to a right initiation. Nevertheless, for both groups, lateral initiation shows the largest asymmetry index reported for a forward initiation. More precisely, adaptive dynamic strategies for the AIS group have been characterized by an asymmetry between right and left limbs for lateral and forward initiation. These results can be explained by the influence of scoliosis pathology on dynamic movements due to spinal deformity. A right thoracic curve leads to an extra weight on the limb, which needs to be moved; consequently, stepping initiation with the right limb was more challenging for patients than stepping with the left limb. For the AIS group, the observed variability can also depend on the ontogenesis of adaptive strategies. Lateral step initiation has to be considered as the most relevant paradigm to study scoliosis and may also serve as a clinical basis for treatment to analyse the dynamic postural control and asymmetry strategies of the scoliosis patient