Genetic skeletal disorders constitute a rare and heterogeneous bone diseases often leading to poor quality of life. Several surgical options are available. The surgeon must deal with specific features (bone deformity, previous procedures, abnormal bone quality, stiffness or instability, muscle weakness). The questions concern the feasibility of the procedures and the surgical strategy. 55 patients (26 W, 29 M) were reviewed between 2016 and 2022. The mean age of the patients was 35 years (17–71). The diagnosis included 9 hereditary multiple exostoses, 8 osteogenesis imperfecta, 6 multiple epiphyseal dysplasia congenita, 6 achondroplasia, 4 osteopetrosis, 3 pycnodysostosis, 3 hypophosphatemic rickets, 3 fibrous dysplasia, 2 mucopolysaccharidosis, and 10 miscellaneous. 25 patients were referred for hip problems (40 hips). 4 patients (7 hips) requiring a THA have not been operated (4 planned). 4 patients (6 hips) had a proximal femoral fixation (2 osteotomies, 4 fracture fixations). 17 patients (27 hips) sustained a THA (25 primary, 2 revisions). All of them were operated by one operator, using a posterolateral approach and standard implants (including 7 dysplastic and 2 short stems). No customized implant has been used. As regard the 27 THAs, the mean follow up was 4.2 years (1–12). The early complications included 2 femoral cracks and 1 femur fracture. There were 2 revisions (1 cup loosening at 2 years, 1 stem loosening at 4 years). No infection nor dislocation occurred. All the patients were satisfied with their treatment and regain some autonomy. 3 THA were considered as unfeasible. Constitutional bone diseases need a multidisciplinary program of care. The indication for surgery is based on a mutual trust patient/surgeon, a careful evaluation of benefits/risks, and an accurate imaging to anticipate the difficulties. The expected results are a better function and quality of life, and a stability over time

The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders with clinical manifestations relevant to the orthopaedic surgeon. Our aim was to review the recent advances in their management and the implications for surgical practice.

The current literature about MPSs is summarised, emphasising orthopaedic complications and their management.

Recent advances in the diagnosis and management of MPSs include the recognition of slowly progressive, late presenting subtypes, developments in life-prolonging systemic treatment and potentially new indications for surgical treatment. The outcomes of surgery in these patients are not yet validated and some procedures have a high rate of complications which differ from those in patients who do not have a MPS.

The diagnosis of a MPS should be considered in adolescents or young adults with a previously unrecognised dysplasia of the hip. Surgeons treating patients with a MPS should report their experience and studies should include the assessment of function and quality of life to guide treatment.

Cite this article: Bone Joint J 2017;99-B:1132–9

Aims

Clinical and radiological data were reviewed for all patients with mucopolysaccharidoses (MPS) with thoracolumbar kyphosis managed non-operatively or operatively in our institution.

Acute angulation at the thoracolumbar junction with segmental subluxation of the spine occurring at the level above an anteriorly hypoplastic vertebra in otherwise normal children is a rare condition described as infantile developmental thoracolumbar kyphosis. Three patient series with total of 18 children have been reported in the literature. We report five children who presented with thoracolumbar kyphosis and discuss the treatment algorithm. We reviewed the medical records and spinal imaging at initial clinical presentation and at minimum two-year follow-up. The mean age at presentation was eight months (two to 12). All five children had L2 anterior vertebral body hypoplasia. The kyphosis improved spontaneously in three children kept under monitoring. In contrast, the deformity was progressive in two patients who were treated with bracing. The kyphosis and segmental subluxation corrected at latest follow-up (mean age 52 months; 48 to 60) in all patients with near complete reconstitution of the anomalous vertebra. The deformity and radiological imaging on a young child can cause anxiety to both parents and treating physicians. Diagnostic workup and treatment algorithm in the management of infantile developmental thoracolumbar kyphosis is proposed. Observation is indicated for non-progressive kyphosis and bracing if there is evidence of kyphosis and segmental subluxation deterioration beyond walking age. Surgical stabilisation of the spine can be reserved for severe progressive deformities unresponsive to conservative treatment.

Cite this article: Bone Joint J 2015;97-B:982–7.

The December 2014 Research Roundup. 360 . looks at: demineralised bone matrix not as good as we thought?; trunk control following ACL reconstruction; subclinical thyroid dysfunction: not quite subclinical?; establishing musculoskeletal function in mucopolysaccharidosis; starting out: a first year in consultant practice under the spotlight; stroke and elective surgery; sepsis and clots; hip geometry and arthritis incidence; and theatre discipline and infection

The December 2013 Children’s orthopaedics Roundup³⁶⁰ looks at: Long term-changes in hip morphology following osteotomy; Arthrogrypotic wrist contractures are surgically amenable; Paediatric femoral lengthening over a nail; Current management of paediatric supracondylar fractures; MRI perfusion index predictive of Perthes’ progression; Abduction bracing effective in residual acetabular deformity; Hurler syndrome in the spotlight; and the Pavlik works for femoral fractures too!

Background: A sharp, localised, thoracolumbar gibbus is pathognomonic of the mucopolysaccharidosis (MPS) group of disorders, the most common of which is Hurlers syndrome (MPS I). Untreated patients with this disease run an inevitable course of neurological and physical degeneration until death within the first decade. Haemopoietic stem cell transplantation (HSCT) has resulted in considerable improvement in survival with amelioration of many of the symptoms and signs which characterise this disease. Data, however, is disappointing in relation to the impact of HSCT on skeletal dysplasia. This study reviews the natural history of spinal deformity in Hurler’s syndrome after HSCT in infancy. Methods: Twenty three patients (12 male and 11 female), transplanted at a mean age of 0.9 years ± 0.47, (range 0.27 – 1.8yrs) were investigated, of whom 19 were at least two years post-HSCT and were included. HLA identical donor sources included unaffected or heterozygote family members, unrelated adults or cord blood. Mean age at review was 9.4 years ± 4.57, (range 2.5 – 18.4yrs). Serial measurements of the thoracolumbar spines incorporated clinical records, radiographs and surface topography. The thoracolumbar gibbus was measured on lateral spinal radiograph using the standard adaptation of the Cobb method. Two segments of the spine were documented: the gibbus itself and the thoracic profile above it. Clinical assessment and surface topography were contrasted with this. Results: At presentation, all showed the characteristic gibbus at the thoracolumbar junction, with a flat and stiff thoracic spine above. Three patients underwent surgery to correct or maintain the gibbus, which was unsuccessful in two; the third is stable, but still young. Two patients have developed scoliosis: one in the juvenile period and one in infancy. Three female patients are now post-menarchal and have shown no progression of their gibbus. One male patient, now aged 19 years, had significant progression of his gibbus at puberty, but is now stable, untreated and cosmetically acceptable. The remainder are still pre-pubertal but their deformities are not currently progressive. Conclusion: The fate of the spinal deformity in untreated MPS-I has been poorly documented, as the condition was invariably fatal from cardiorespiratory failure during the first decade. These interim results suggest that, while the deformity persists and may become more pronounced during growth and adolescence, it does not significantly impact on quality of life. The considerations which usually dictate intervention in other spinal deformities of childhood may not necessarily apply and should be approached with caution. The more recent availability of recombinant human -L- iduronidase adds further interest to the management of these patients and warrants cautious expectation , in the context of experience gained in these groups of patients. In conclusion atients with MPS I have complex multisystem disorders, independent of their orthopaedic status. While monitoring their spinal deformity is indicated, over-intrusive investigation and treatment may be counterproductive

We report a case of Perthes like changes in the rare disorder of Geleophysic dysplasia and add it to the world literature (24 cases). We found an increased incidence of Perthes at 12% (3/25). Geleophysic dysplasia is characterised by short stature with short limbs distally, normal intelligence, joint stiffness, hepatomegaly and happy facial characteristics. The disease has the clinical and histological appearance of a mucopolysaccharidosis. Perthes changes were seen at the age of 4 years and treated conservatively, with poor clinical results despite the early onset and reasonable radiological improvement. MRI scans of the affected hip did not show any unusual features that differentiate it from normal Perthes disease. The patient also developed carpal tunnel syndrome, which has been seen in with increasing frequency in mucopolysaccharidoses such as Hurlers syndrome, but has not been associated with Geleophysic dysplasia before

Introduction: Carpal tunnel syndrome is frequent in children with mucopolysaccharidosis. Diagnosis is difficult according to the slow progression of compression of the medial nerve and treatment is controversial. Material & Methods: Twelve children were studied: 8 Hurler’s, 2 Hunter’s and 2 Maroteaux-Lamy’s diseases. All had clinical and EMG evaluation. Eight of them were operated, both sides. Results: All the children had progressive and severe hypoesthesia before surgery. Nerve conduction velocity was very slow compared to normal values. After the open surgical release (16 cases) and synovectomy of flexor tendons (13 of 16 cases), all the patients were improved. The histology of the synovitis showed less glycosaminoglycans in patients who had a bone marrow transplantation. Surgical treatment must be an open release of the anterior ligament associated with a synovectomy of flexor tendons and a ventral epineurotomy. Discussion: According to the literature, carpal tunnel syndrome is observed in two third of patients of type I, II and VI mucopolysaccharidosis. Diagnosis is often difficult when cervical compression of the spinal cord is an associated factor. The diagnosis is made with clinical and EMG evaluation. Treatment must be early. MRI is an alternative to evaluate the morphology of the nerve: its compression below the carpal ligament and its bulky aspect just proximal to the carpal tunnel are clearly shown

Children with a mucopolysaccharidosis or mucolipidosis suffer progressive disability of the hands, particularly in relation to dysfunction of the median nerve. This is an increasing problem because bone-marrow transplantation has dramatically improved survival without apparently changing the musculoskeletal manifestations. We have reviewed 48 children with these syndromes who required carpal tunnel decompression, recording symptoms, signs, radiological, electrophysiological and operative findings, histology and upper-limb function. In these children the carpal tunnel syndrome differs from that seen in adults. Symptoms are rare but signs such as decreased sweating, pulp atrophy, thenar wasting and manual clumsiness are much more common. At operation, the flexor retinaculum was thickened and a mass of white tenosynovium engulfed the flexor tendons. Most patients had some definite nerve constriction with a thickened epineurium. Functional improvement was seen after early decompression, with some benefit from simultaneous tendon release. Regular physiotherapy helped to maintain increased hand movement. We describe our assessment protocol, the physiotherapy and operative regime and the standard functional review which helps to maximise function in the hands and upper limbs of these children