Aims. In this study, we aimed to evaluate incidence trends and potential risk factors associated with Perthes’ disease in Denmark, using publicly available data. Methods. Our population-based case-control study used data from the Danish National Patient Register and Danish Civil Registration System, accessed through the publicly available Danish Biobank Register, to identify 1,924,292 infants born between 1985 and 2016. We estimated age-specific incidence rates for four birth periods of equal duration (1985 to 1992, 1993 to 2000, 2001 to 2008, and 2009 to 2016) and investigated associations with perinatal conditions, congenital malformations, coagulation defects, autism spectrum disorders (ASD), and attention deficit hyperactivity disorders (ADHD). Results. We identified 2,374 (81.6% male) diagnosed with Perthes’ disease aged between two and 12 years, corresponding to an overall incidence of 12.1 per 100,000 live births relative to the year of birth. The incidence declined across all four birth periods, irrespective of sex or age at diagnosis. Several perinatal conditions were associated with higher Perthes’ disease risk. Children with reported birth injuries (vs no reported injuries) exhibited the highest risk (relative risk (RR) 7.48 (95% CI 3.37 to 16.63)) followed by those with versus without coagulation defects (RR 4.77 (95% CI 1.79 to 12.69)). Children diagnosed with syndromic (RR 2.90 (95% CI 2.08 to 4.04)) or non-syndromic major congenital malformations (RR 1.86 (95% CI 1.55 to 2.23)) (vs those with no malformation diagnosis) were also associated with higher Perthes’ disease risk. The development of Perthes’ disease was positively associated with several ASD and ADHD diagnoses. However, once adjusting for the sex of the child and period of birth, the associations with ASD and ADHD were no longer significant. Conclusion. Using publicly available data, we observed a declining incidence of Perthes’ disease in Denmark over a 32-year study period. Our findings also confirm positive associations between Perthes’ disease and various perinatal conditions, coagulation defects, and congenital malformations, highlighting potential aetiological pathways for further investigation. Cite this article: Bone Joint J 2025;107-B(2):268–276

There is a close link between the embryological development of the musculoskeletal system and all other main organ systems. We report a prospective series of 202 patients with congenital vertebral abnormalities and document the associated abnormalities in other systems. There were 100 boys and 102 girls. In 153 there were 460 associated abnormalities, a mean of 2.27 abnormalities for each patient. Intravenous pyelography was carried out on 173 patients (85.6%) and ultrasonography on the remaining 29 (14.4%). Patients with genitourinary anomalies were more likely to have musculoskeletal (p = 0.002), gastrointestinal (p = 0.02) and cardiac abnormalities (p = 0.008) than those without genitourinary involvement. A total of 54 (26.7%) had at least one genitourinary abnormality, the most frequent being unilateral renal agenesis. There was urinary obstruction in six (3%). There was no association between genitourinary abnormality and the place of birth, parental age, birth order, level of spinal curvature, or the number, type and side of spinal anomaly. There was, however, a statistically significant association (p = 0.04) between costal and genitourinary abnormalities. The incidence of genitourinary abnormalities (26.7%) was similar to that of previously reported series. The diagnosis of a congenital vertebral abnormality should alert the clinician to a wide spectrum of possible associated anomalies most of which are of clinical importance.

1 . The magnitude of the problem of congenital anomalies becomes evident when one takes into consideration the fact that they cause the death of approximately one quarter of the human race either before or shortly after birth, and handicap an appreciable proportion of the survivors throughout their lives. Further, a significant percentage of infants judged to be normal at birth are found in later life to suffer from "disguised" anomalies of the skeleton and soft tissues. Though the study of genetic factors leading to congenital defects has attracted a great deal of attention during the last few decades, the importance of environmental causes of human malformations has received relatively less emphasis. The association of congenital anomalies such as cataract and cardiac septal defects with maternal intercurrent infection of rubella during the early months of pregnancy demonstrates clearly that changes in the germplasm cannot always be invoked as the cause of developmental abnormalities. Congenital malformations that are sometimes genetically determined, such as microphthalmos, cleft palate, and certain skeletal abnormalities, can be caused in the offspring not only by maternal nutritional deficiencies and x-radiation but also, at least in some animals, such as chickens, rats and rabbits, by the introduction of certain substances like insulin into the environment of the embryo during its development. 2. Since very little is known of the detailed histology of the early human embryo, the histological examination of cases of perverted growth is mainly limited to aborted foetuses which, unfortunately, tend to present varying degrees of post-mortem degeneration before accurate histological methods can be applied. It is exactly in this field that animal experiments can offer valuable help. According to Mall and other embryologists the pathological changes that take place in human foetuses and those obtained experimentally in animals are not merely "analogous or similar but identical.". 3. An attempt has been made to review, in some detail, the more important work which has been carried out on experimental teratogenesis, on the epidemiological implications of developmental arrests in humans, and on foetal abnormalities associated with maternal metabolic and hormonal disorders during pregnancy. 4. The technique employed for injection of insulin into the egg yolk has been described. Methods used for the estimation of blood sugar in chick embryos at various stages after injection of insulin and special histochemical techniques for localising polysaccharides in cartilage have been outlined. 5. A few salient experimental results have been tabulated, and some of the insulin-induced abnormalities have been illustrated. 6. The possible mechanism of action of insulin in the causation of the various developmental anomalies has been discussed. Broadly speaking, insulin seems to affect primarily the part or tissue which is in the most active stage of growth or differentiation at the time of the injection. Within the range of 0·05 to 6 units of insulin employed, the incidence, severity and distribution of the deformities appear to increase with the dose of the hormone. It has been observed that the hypoglycaemia caused by insulin injection is not counteracted till about the twelfth day of incubation, presumably because of excessive accumulation of glycogen in the yolk-sac membrane immediately after the injection, and because of lack of glycogen storage in the embryonic liver and the absence of active secretion in the endocrine glands concerned with the carbohydrate metabolism of the embryo. It has been suggested that this unchecked hypoglycaemia may deprive the mesenchyme, pre-cartilage and cartilage of glycogen and mucopolysaccharides (chondroiten-sulphuric acid complexes), depending on the time of injection and the dose of insulin, and thus not only give rise to a variety of single and multiple deformities in the cartilaginous skeleton but also interfere with the normal endochondral ossification, resulting in a generalised developmental disturbance of bone resembling osteogenesis imperfecta in the human. 7. Insulin-induced abnormalities can be prevented to a remarkable extent by injecting nicotinamide and riboflavin into eggs along with insulin. 8. The question of the practical application of the knowledge gained from experimental observations on insulin-induced developmental abnormalities in explaining the possible causation of congenital anomalies in humans by genetic and environmental teratogenic factors, has been discussed. It is suggested that the orderly progression from the mesenchymatous condensation to cartilage, and then through calcified cartilage to bone, may be disturbed by these teratogenic factors at critical phases during the development of the embryo, and a variety of single and multiple skeletal deformities may thus be induced. 9. A plea is made for routine pathological and radiological examination of aborted foetuses and stillborn infants more or less on the lines followed for experimentally induced deformities with a view to applying the knowledge gained from animal experiments to a better understanding of the etiology and pathology of human congenital anomalies. 10. As regards the possible prevention of these deformities, it is not always easy to offer sound eugenic advice in the cases of congenital malformations determined partly or completely by genetic factors, for two important reasons. First, it is often difficult to distinguish between genetically determined congenital anomalies and their phenocopies. Secondly, genetically determined developmental defects sometimes show surprisingly variable expressivity and penetrance. For the conditions in which both genetic and environmental factors are involved, the most profitable immediate line of attack would be on the environmental factors. A relatively simpler problem is presented by the malformations which are, for all practical purposes, entirely caused by environmental factors. Measures to prevent congenital anomalies caused by prenatal rubella, such as exposure of girls to the disease during childhood and protection of pregnant women during the early stages of pregnancy by immune serum, are under active consideration. 11 . Further energetic investigation of the causes of permaturity, stillbirths, monstrosities and congenital malformations is urgently needed, before embarking on a successful programme for prevention. "The day of successful prophylaxis is not yet, but it is much nearer than seemed possible a few years ago."

1. A group of children with congenital malformations of the lower back involving the spinal cord or nerve roots is described. The malformations have little or no resemblance to spinal rachischisis, either embryologically or clinically. The lesions found are often complex. 2. It is considered from clinical and operative findings that the malformations are, in many patients, responsible for increasing neural damage in childhood and even in later life. 3. Early investigation and operative treatment are recommended

We performed posterior fixation with a Hartshill-Ransford contoured loop in 43 patients with instability at the craniocervical junction. No external bracing was used. Fifteen patients had congenital malformations, ten had tumours, seven had 'bone-softening' conditions (such as osteogenesis imperfecta), five had suffered complicated fractures, three had occipito-C1-C2 hypermobility due to lax ligaments and three had severe degenerative spondylosis with pseudotumours of the transverse ligament. Twenty-nine patients had transoral decompression of the cord before fixation. In most cases, cancellous bone grafts taken from the iliac crest were used to induce fusion; in nine very ill patients, no bone graft was used. In the whole series there was no instance of construct failure, broken wire or laminar fracture. The best results were achieved in patients with tumours or bone-softening conditions. No patient with normal neurology deteriorated after surgery but seven had worse neurological deficits after operation than before. Neck stiffness caused half the patients to change their lifestyle

Since this paper was submitted for publication three additional reports have appeared, two of which represent typical examples of the syndrome. Husson and Parkman (1961) reported the case of a female infant dying at the age of four months with chondroectodermal dysplasia, obliteration of the upper labiogingival sulcus, and congenital heart disease. The heart lesions included anomalous pulmonary venous return, single atrium and a persistent left superior vena cava. There was no known consanguinity. In reviewing the cardiac lesions described in chondroectodermal dysplasia they include another case with anomalous pulmonary venous return described by Darling, Rothney and Craig (1957), which also showed chondroectodermal dysplasia and polydactyly, though details of the extracardiac malformations are not given. Nabrady (1961) described a four-year-old Hungarian girl with ectodermal defects involving the teeth and nails but not the hair, polydactyly, distal shortening of the extremities producing dwarfing, and typical radiological appearances of the long bones. There was presumptive evidence of a septal defect of the heart. There was no consanguinity, but the mother was considered to show a "forme fruste" of the condition. A necropsy report by Meitner (1961) of a newly born premature infant with multiple congenital malformations of organs of ectodermal, mesodermal and endodermal origin is of interest because these malformations included extreme polydactyly of hands and feet, absence of nails, chondrodysplasia, and trilocular heart. In many respects, however, the case is atypical of chondroectodermal dysplasia

Aims

The gold standard for percutaneous Achilles tendon tenotomy during the Ponseti treatment for idiopathic clubfoot is a tenotomy with a No. 15 blade. This trial aims to establish the technique where the tenotomy is performed with a large-bore needle as noninferior to the gold standard.

Aims

As an increasing number of female surgeons are choosing orthopaedics, it is important to recognize the impact of pregnancy within this cohort. The aim of this review was to examine common themes and data surrounding pregnancy, parenthood, and fertility within orthopaedics.

This paper reports fifteen cases of ball and socket articulation at the ankle followed up for an average of twelve years. All patients showed inequality of leg length. Ten patients showed coalitions of the bones of the hindfoot and nine patients had a reduction in the number of bony elements of the forefoot. Other associated anomalies are described. The abnormality seems to be part of a congenital short-limb malformation, perhaps modified by adaptive change associated with rigidity of the hindfoot. Surgical intervention was not required in any patient in the series

Aims

To benchmark the radiation dose to patients during the course of treatment for a spinal deformity.

Aims

The aims of this study is to report the clinical and radiological outcomes after pre-, central-, and postaxial polydactyly resection in children from a tertiary referral centre.

Aims

The surgical treatment of tuberculosis (TB) of the spine consists of debridement and reconstruction of the anterior column. Loss of correction is the most significant challenge. Our aim was to report the outcome of single-stage posterior surgery using bone allografts in the management of this condition.

Patients with osteoarthritis undergoing knee replacement have been reported to have an overall reduced mortality compared with that of the general population. This has been attributed to the selection of healthier patients for surgery. However, previous studies have had a maximum follow-up time of ten years. We have used information from the Swedish Knee Arthroplasty Register to study the mortality of a large national series of patients with total knee replacement for up to 28 years after surgery and compared their mortality with that of the normal population. In addition, for a subgroup of patients operated on between 1980 and 2002 we analysed their registered causes of death to determine if they differed from those expected.

We found a reduced overall mortality during the first 12 post-operative years after which it increased and became significantly higher than that of the general population. Age-specific analysis indicated an inverse correlation between age and mortality, where the younger the patients were, the higher their mortality. The shift at 12 years was caused by a relative over-representation of younger patients with a longer follow-up. Analysis of specific causes of death showed a higher mortality for cardiovascular, gastrointestinal and urogenital diseases. The observation that early onset of osteoarthritis of the knee which has been treated by total knee replacement is linked to an increased mortality should be a reason for increased general awareness of health problems in these patients.

Radiological imaging is necessary in a wide variety of trauma and elective orthopaedic operations. The evolving orthopaedic workforce includes an increasing number of pregnant workers. Current legislation in the United Kingdom, Europe and United States allows them to choose their degree of participation, if any, with fluoroscopic procedures. For those who wish to engage in radiation-prone procedures, specific regulations apply to limit the radiation dose to the pregnant worker and unborn child.

This paper considers those aspects of radiation protection, the potential effects of exposure to radiation in pregnancy and the dose of radiation from common orthopaedic procedures, which are important for safe clinical practice.

The long-term effects of metal-on-metal arthroplasty are currently under scrutiny because of the potential biological effects of metal wear debris. This review summarises data describing the release, dissemination, uptake, biological activity, and potential toxicity of metal wear debris released from alloys currently used in modern orthopaedics. The introduction of risk assessment for the evaluation of metal alloys and their use in arthroplasty patients is discussed and this should include potential harmful effects on immunity, reproduction, the kidney, developmental toxicity, the nervous system and carcinogenesis.

A nationwide study of Perthes’ disease in Norway was undertaken over a five-year period from January 1996. There were 425 patients registered, which represents a mean annual incidence of 9.2 per 100 000 in subjects under 15 years of age, and an occurrence rate of 1:714 for the country as a whole. There were marked regional variations. The lowest incidence was found in the northern region (5.4 per 100 000 per year) and the highest in the central and western regions (10.8 and 11.3 per 100 000 per year, respectively). There was a trend towards a higher incidence in urban (9.5 per 100 000 per year) compared with rural areas (8.9 per 100 000 per year). The mean age at onset was 5.8 years (1.3 to 15.2) and the male:female ratio was 3.3:1.

We compared 402 patients with a matched control group of non-affected children (n = 1 025 952) from the Norwegian Medical Birth Registry and analysed maternal data (age at delivery, parity, duration of pregnancy), birth length and weight, birth presentation, head circumference, ponderal index and the presence of congenital anomalies. Children with Perthes’ disease were significantly shorter at birth and had an increased frequency of congenital anomalies.

Applying Sartwell’s log-normal model of incubation periods to the distribution of age at onset of Perthes’ disease showed a good fit to the log-normal curve. Our findings point toward a single cause, either genetic or environmental, acting prenatally in the aetiology of Perthes’ disease.