Aims

Developmental dysplasia of the hip (DDH) can be managed effectively with non-surgical interventions when diagnosed early. However, the likelihood of surgical intervention increases with a late presentation. Therefore, an effective screening programme is essential to prevent late diagnosis and reduce surgical morbidity in the population.

Aims

Early detection of developmental dysplasia of the hip (DDH) is associated with improved outcomes of conservative treatment. Therefore, we aimed to evaluate a novel screening programme that included both the primary risk factors of breech presentation and family history, and the secondary risk factors of oligohydramnios and foot deformities.

Aims

The aim of this study was to identify the association between asymmetrical skin creases of the thigh, buttock or inguinal region and pathological developmental dysplasia of the hip (DDH).

Aims

Despite the presence of screening programmes, infants continue to present with late developmental dysplasia of the hip (DDH), the impact of which is significant. The aim of this study was to assess infants with late presenting dislocation of the hip despite universal clinical neonatal and selective ultrasound screening.

Dupuytren Disease (DD), the most common connective tissue disease in man, presents as a benign fibromatosis of the hands and fingers resulting in the formation of nodules and cords and often leading to flexion contractures in association with keloids or Peyronie disease. Surgical resection of the fibrotic nodules, and more recently intra-lesional collagenase injection are the main therapeutic options for these patients. While the exact cause of DD is still unknown, linkage and Genome Wide Association Studies (GWAS) showed molecular heterogeneity with at least 10 different susceptibility loci 6 of which are close to genes encoding proteins in the Wnt-signaling pathway. We aim to identify the molecular basis of Dupuytren Disease (DD). Twenty patients with Dupuytren disease (including 3 patients with autosomal dominant inheritance, 1 with keloids and congenital torticollis, 2 with Peronie disease), were included in this study. Chromosome Microarray Analysis (CMA), Whole Exome Sequencing (WES) of gDNA and proteomic analysis by LC-Tandem Mass Spectrometry (LC-MSMS) studies were performed. Expression and Network analysis of LCMSMS results was performed using Principal Component Analysis (PCA), ANOVA and Ingenuity Pathway Analysis (IPA). No pathogenic copy number variants (CNVs) were found in CMA (n = 3). WES showed potentially pathogenic variants in POSTN, WNT11, MMP1 and COL3A1. PCA showed three differentially expressed clusters and network-IPA identified ACTB, BAX, COL3A1, FBN1, FN1, MMP1 as potential biomarkers. Comprehensive multi-OMIC analysis of gDNA and tissue proteins in patients with DD identified several connective tissue biomarkers potentially important in the pathogenesis of DD

Aims. Although atlantoaxial rotatory fixation (AARF) is a common cause of torticollis in children, the diagnosis may be delayed. The condition is characterised by a lack of rotation at the atlantoaxial joint which becomes fixed in a rotated and subluxed position. The management of children with a delayed presentation of this condition is controversial. This is a retrospective study of a group of such children. Patients and Methods. Children who were admitted to two institutions between 1988 and 2014 with a diagnosis of AARF were included. We identified 12 children (four boys, eight girls), with a mean age of 7.3 years (1.5 to 13.4), in whom the duration of symptoms on presentation was at least four weeks (four to 39). All were treated with halo traction followed by a period of cervical immobilisation in a halo vest or a Minerva jacket. We describe a simple modification to the halo traction that allows the child to move their head whilst maintaining traction. The mean follow-up was 59.6 weeks (24 to 156). Results. Despite the delay in referral, the subluxation was successfully reduced in all children. Only two children required atlantoaxial fusion. Conclusion. The results of our study suggest that normal anatomy with restoration of movement may be achieved even in cases of AARF presenting late, obviating the need for fusion. We also show a simple modification to the halo traction that allows the child to move their head about while still maintaining traction. Take home message: Prompt diagnosis and management with halo traction (with a simple modification as described) is associated with good results in patients with AARF who present late. Cite this article: Bone Joint J 2016;98-B:715–20

Spondylodiscitis rarely coexists with endocarditis (around 5% of patients with endocarditis). Furthermore, viridans streptococci are not common pathogens of spondylodiscitis and finally the combination of spondylodiscitis and right – sided endocarditis due to viridans streptococci is rare. We present a case of right-sided native valve endocarditis due to Streptococcus mutans presenting as cervical and lumbar spondylodiscitis in a patient with obstructive cardiomyopathy. A 52 year – old man with a history of hypertrophic obstructive cardiomyopathy was admitted with fever and back pain of ten days duration, followed by torticollis. He had undergone dental therapy some weeks before symptom appearance, due to bad oral hygiene, without receiving any chemoprophylaxis. Magnetic resonance imaging revealed L4-L5 and C4-C5 spondylodiscitides. Four blood cultures drawn were all positive for Streptococcus mutans, while fine needle aspiration of the lumbar lesion was unsuccessful. Transesophageal echocardiogram revealed tricuspid and possible pulmonary valve vegetations. The patient was treated with ceftriaxone plus gentamicin for 2 weeks and then ceftriaxone only, for a total of 3 months. He had an uneventful recovery and was referred for cardiosurgical consultation. Physicians managing cases of spondylodiscitides should bear in mind to rule out endocarditis, especially in cases with underlying cardiopathy. The possibility of coexistence is even greater when there is sustained bacteremia and the pathogen isolated from blood cultures is a common pathogen for endocarditis

The aim of this prospective study was to investigate prematurity as a risk factor for developmental dysplasia of the hip (DDH). The hips of 221 infants (88 female, 133 male, mean age 31.11 weeks; standard deviation (sd) 2.51) who were born in the 34th week of gestation or earlier, and those of 246 infants (118 female, 128 male, mean age 40.22 weeks; sd 0.36) who were born in the 40th week of gestation, none of whom had risk factors for DDH, were compared using physical examination and ultrasound according to the technique of Graf, within one week, after the correction of gestational age to the 40th week after birth or one week since birth, respectively. Both hips of all infants were included in the study. Ortolani’s and Barlow’s tests and restricted abduction were accepted as positive findings on examination. There was a statistically significant difference between pre- and full-term infants, according to the incidence of mature and immature hips (p < 0.001). The difference in the proportion of infants with an α angle < 60° between the two groups was statistically significant (p < 0.001). The incidence of pathological dysplasia (α angle < 50 º) was not significantly different in the two groups (p = 1.000). The Barlow sign was present in two (0.5%) pre-term infants and in 14 (2.8%) full-term infants.

These results suggests that prematurity is not a predisposing factor for DDH.

Cite this article: Bone Joint J 2015; 97-B:716–20

There is controversy whether congenital foot abnormalities are true risk factors for pathological dysplasia of the hip. Previous United Kingdom screening guidelines considered congenital talipes equinovarus (CTEV) to be a risk factor for hip dysplasia, but present guidelines do not. We assessed the potential relationship between pathological dysplasia of the hip and fixed idiopathic CTEV.

We present a single-centre 21-year prospective longitudinal observational study. All fixed idiopathic CTEV cases were classified (Harrold and Walker Types 1 to 3) and the hips clinically and sonographically assessed. Sonographic Graf Type III, IV and radiological irreducible hip dislocation were considered to be pathological hip dysplasia.

Over 21 years there were 139 children with 199 cases of fixed idiopathic CTEV feet. Sonographically, there were 259 normal hips, 18 Graf Type II hips, 1 Graf Type III hip and 0 Graf Type IV hip. There were no cases of radiological or sonographic irreducible hip dislocation.

Fixed idiopathic CTEV should not be considered as a significant risk factor for pathological hip dysplasia. This conclusion is in keeping with the current newborn and infant physical examination guidelines in which the only risk factors routinely screened are family history and breech presentation. Our findings suggest CTEV should not be considered a significant risk factor in pathological dysplasia of the hip.

Cite this article: Bone Joint J 2014;96-B:1553–5.

Malformation and hypoplasia of the clavicle can result in pain, impaired function, restricted shoulder movement, subjective feeling of instability and cosmetic deformity. There are no reports of clavicle lengthening by osteotomy and distraction osteogenesis (DO). This is a retrospective review of 5 patients (7 clavicles) who underwent clavicle lengthening by DO using a monolateral external fixator for clavicular hypoplasia. There were 3 males and 2 females with mean age 15 years (9 to 23) and mean follow-up 21 months (8 to 51). Preoperative diagnoses included Klippel-Feil syndrome, cleidocranial dysplasia with torticollis, congenital myopathy and Noonans syndrome and obstetric brachial plexus injury. Mean length gained was 31 mm (15 to 41) which represens an average of 24.7% of overall bone length. Mean time in fixator was 174 days (161 to 263) and mean external fixation index was 56 days/cm. Two patients required internal fixation following fixator removal to consolidate union and one required additional internal fixation for atrophic regenerate. Mean preoperative oxford shoulder score improved from 28.5 to 41 and all patients were extremely satisfied with their result. Two patients developed pin site infections. Clavicular lengthening by distraction osteogenesis for congenital clavicular hypoplasia is a previously unreported technique that enables gradual correction of deformity without risking brachial plexus traction injury following acute correction. It has the potential to improve shoulder pain, function, range of movement and cosmesis. Distraction ≥25% of overall bone length may require additional plate fixation to consolidate union

Twins are often considered to be at an increased risk of developmental dysplasia of the hip (DDH); we therefore investigated whether multiple births have a higher incidence of DDH, and if selective ultrasound scanning should be considered for these infants.

We reviewed our records of all live births between 1 January 2004 and 31 December 2008 and included 25 246 single and 990 multiple births.

Multiple births did not have a significantly higher incidence of DDH compared with single births (0.0030 vs 0.0023, p = 0.8939). Of the 990 multiple births, 267 had neonatal ultrasound scans and one case of DDH was diagnosed and treated successfully with a Pavlik harness. There were two late-presenting cases at eight and 14 months of age, neither of whom had risk factors for DDH and consequently had not had a neonatal scan. Whereas selective ultrasound scanning of multiple births would have led to earlier detection and treatment of the late-presenting cases, they did not have a significantly higher incidence of DDH compared with single births.

We conclude that being a twin or triplet in itself is not a risk factor for DDH and that selective ultrasound scanning is not indicated for this population.

Cite this article: Bone Joint J 2013;95-B:132–4.

We reviewed seven children with torticollis due to refractory atlanto-axial rotatory fixation who were treated in a halo vest. Pre-operative three-dimensional CT and sagittal CT imaging showed deformity of the superior articular process of C2 in all patients. The mean duration of halo vest treatment was 67 days (46 to 91). The mean follow-up was 34 months (8 to 73); at the latest review six patients demonstrated remodelling of the deformed articular process. The other child, who had a more severe deformity, required C1-2 fusion. We suggest that patients with atlanto-axial rotatory fixation who do not respond to conservative treatment and who have deformity of the superior articular process of C2 should undergo manipulative reduction and halo-vest fixation for two to three months to induce remodelling of the deformed superior articular process before C1-2 fusion is considered

Adult presentation of neglected congenital muscular torticollis is rare. We report 12 patients with this condition who underwent a modified Ferkel’s release comprising a bipolar release of sternocleidomastoid with Z-lengthening. They had a mean age of 24 years (17 to 31) and were followed up for a minimum of two years. Post-operatively a cervical collar was applied for three weeks with intermittent supervised active assisted exercises for six weeks. Outcome was assessed using a modified Lee score and a Cheng and Tang score. The mean pre-operative rotational deficit was 8.25° (0° to 15°) and mean lateral flexion deficit was 20.42° (15° to 30°), which improved after treatment to a mean of 1.67° (0° to 5°) and 7.0° (4° to 14°) after treatment, respectively. According to the modified Lee scoring system, six patients had excellent results, two had good results and four had fair results, and using the Cheng and Tang score, eight patients had excellent results and four had good results. Surgical management of adult patients with neglected congenital muscular torticollis using a modified Ferkel’s bipolar release gives excellent results. The range of neck movement and head tilt improved in all 12 patients and cosmesis improved in 11, despite the long-standing nature of the deformity

This prospective cohort study aimed to investigate the relationship between developmental dysplasia of the hip and mode of delivery in 571 consecutive breech infants using a modified Graf’s static morphological method to grade the severity of dysplasia.

In this group, 262 infants were born by planned Caesarian section, 223 by emergency section and 86 vaginally. Taking all grades of hip dysplasia into account (Graf types II, III and IV), there was no statistical difference in the incidence of dysplasia between the groups (elective section 8.4%, emergency section 8.1% and vaginal delivery 7.0%). However, when cases with Graf type II dysplasia, which may represent physiological immaturity, were excluded, the rate of type III and IV hips, which we consider to be clinically relevant, increased in the vaginally delivered group (4.7%) compared with the elective section group (1.1%), with a relative risk of approximately 1:4 (95% confidence interval 1.03 to 15.91). No difference was observed between the emergency and elective section groups, or between the emergency section and vaginally delivered groups.

This study supports previous published work, with the added value that the diagnoses were all confirmed by ultrasound.

The association between idiopathic congenital talipes equinovarus (CTEV) and developmental dysplasia of the hip is uncertain. We present an observational cohort study spanning 6.5 years of selective ultrasound screening of hips in clubfoot. From 119 babies with CTEV there were nine cases of hip dysplasia, in seven individuals. This suggests that 1 in 17 babies with CTEV will have underlying hip dysplasia.

This study supports selective ultrasound screening of hips in infants with CTEV.

We present the case of an 83-year-old man who developed quadriparesis and respiratory embarrassment following osteomyelitis at the occipito-atlantoaxial junction. He had developed an abscess at this site after an earlier urinary infection with methicillin-resistant staphylococcus aureus. Stabilisation of the neck and antibiotic therapy led to an almost complete neurological recovery without recourse to anterior surgery.

We retrospectively studied the possibility that direct trauma to the biceps muscle might be the cause of poor elbow flexion and supination in 18 consecutive children with birth lesions of the brachial plexus who had delayed or impaired biceps recovery despite neurophysiological evidence of reinnervation. All had good shoulder and hand function at three months of age. Eight recovered a strong biceps after six months, but nine required a pectoralis minor to biceps transfer to augment elbow flexion and supination. One had a delayed but good recovery of the biceps after microsurgical reconstruction of the plexus. All had a clinical ‘pseudotumour’ in the biceps muscle, which was biopsied during pectoralis minor transfer in two patients and showed rupture and degeneration of muscle fibres with a fibro-fatty infiltrate, suggesting previous muscle trauma.

Direct muscle trauma is an uncommon but important cause of delayed or impaired biceps recovery after brachial plexus birth injuries. Surgery to reinnervate the biceps muscle will not work if substantial muscle damage is present when a suitable muscle transfer should be considered.