This study evaluated the effect of limb lengthening on longitudinal growth in patients with achondroplasia. Growth of the lower extremity was assessed retrospectively by serial radiographs in 35 skeletally immature patients with achondroplasia who underwent bilateral limb lengthening (Group 1), and in 12 skeletally immature patients with achondroplasia who did not (Group 2). In Group 1, 23 patients underwent only tibial lengthening (Group 1a) and 12 patients underwent tibial and femoral lengthening sequentially (Group 1b). The mean lengthening in the tibia was 9.2 cm (59.5%) in Group 1a, and 9.0 cm (58.2%) in the tibia and 10.2 cm (54.3%) in the femur in Group 1b. The mean follow-up was 9.3 years (8.6 to 10.3). The final mean total length of lower extremity in Group 1a was 526.6 mm (501.3 to 552.9) at the time of skeletal maturity and 610.1 mm (577.6 to 638.6) in Group 1b, compared with 457.0 mm (411.7 to 502.3) in Group 2. However, the mean actual length, representing the length solely grown from the physis without the length of distraction, showed that there was a significant disturbance of growth after limb lengthening. In Group 1a, a mean decrease of 22.4 mm (21.3 to 23.1) (4.9%) was observed in the actual limb length when compared with Group 2, and a greater mean decrease of 38.9 mm (37.2 to 40.8) (8.5%) was observed in Group 1b when compared with Group 2 at skeletal maturity. In Group 1, the mean actual limb length was 16.5 mm (15.8 to 17.2) (3.6%) shorter in Group 1b when compared with Group 1a at the time of skeletal maturity. Premature physeal closure was seen mostly in the proximal tibia and the distal femur with relative preservation of proximal femur and distal tibia. We suggest that significant disturbance of growth can occur after extensive limb lengthening in patients with achondroplasia, and therefore, this should be included in pre-operative counselling of these patients and their parents

We carried out an MRI study of the lumbar spine in 15 patients with achondroplasia to evaluate the degree of stenosis of the canal. They were divided into asymptomatic and symptomatic groups. We measured the sagittal canal diameter, the sagittal cord diameter, the interpedicular distance at the mid-pedicle level and the cross-sectional area of the canal and spinal cord at mid-body and mid-disc levels. The MRI findings showed that in achondroplasia there was a significant difference between the groups in the cross-sectional area of the body canal at the upper lumbar levels. Patients with a narrower canal are more likely to develop symptoms of spinal stenosis than others

Lengthening of the humerus is now an established technique. We compared the complications of humeral lengthening with those of femoral lengthening and investigated whether or not the callus formation in the humerus proceeds at a higher rate than that in the femur. A total of 24 humeral and 24 femoral lengthenings were performed on 12 patients with achondroplasia. We measured the pixel value ratio (PVR) of the lengthened area on radiographs and each radiograph was analysed for the shape, type and density of the callus. The quality of life (QOL) of the patients after humeral lengthening was compared with that prior to surgery. The complication rate per segment of humerus and femur was 0.87% and 1.37%, respectively. In the humerus the PVR was significantly higher than that of the femur. Lower limbs were associated with an increased incidence of concave, lateral and central callus shapes. Humeral lengthening had a lower complication rate than lower-limb lengthening, and QOL increased significantly after humeral lengthening. Callus formation in the humerus during the distraction period proceeded at a significantly higher rate than that in the femur. . These findings indicate that humeral lengthening has an important role in the management of patients with achondroplasia

Genu varum in the achondroplastic patient has a complex and multifactorial aetiology. There is little mention in the literature of the role of fibular overgrowth. Using the ratio of fibular to tibial length as a measurement of possible fibular overgrowth, we have related it to the development of genu varum. Full-length standing anteroposterior radiographs of 53 patients with achondroplasia were analysed. There were 30 skeletally-immature and 23 skeletally-mature patients. Regression analysis was performed in order to determine if there was a causal relationship between fibular overgrowth and the various indices of alignment of the lower limb. Analysis showed that the fibular to tibial length ratio had a significant correlation with the medial proximal tibial angle and the mechanical axial deviation in the skeletally-immature group. We conclude that there is a significant relationship between fibular overgrowth and the development of genu varum in the skeletally-immature achondroplastic patient

Forty-eight patients with achondroplasia and 24 with hypochondroplasia have been reviewed in order to clarify the differences between the two disorders and establish the height, body proportions and other clinical and radiological variations within each group. Some of the "classical" findings in achondroplasia are not always present, and hypochondroplasia at its most severe is indistinguishable from achondroplasia at its least severe. The frequency of spinal stenosis and neurological complications was established in an unselected group of 27 achondroplastic and 12 hypochondroplastic patients aged 10 years and over. Only three of the former were free of symptoms but only three developed serious complications (11 per cent). Measurement of radiographs of the lumbar canal did not in general correlate well with the severity of spinal stenosis symptoms, but it was found that the ratio of interpedicular distances at the first and fourth lumbar vertebrae had some value. Neurological complications were rare in patients with simple narrowing of the spinal canal or with persistence of a thoracolumbar kyphos but when these occurred together there was a high risk of serious neurological involvement

Recent studies of the fibroblast growth factor receptor 3 (FGFR3) gene have established that achondroplasia and hypochondroplasia are allelic disorders of different mutations. To determine whether the genotype could be distinguished on the basis of the phenotype, we analysed height, arm span, and skeletal radiographs from 23 patients with achondroplasia and the G380R mutation of FGFR3 and eight with hypochondroplasia and the N540K mutation. Both conditions share the classical pathological features of micromelic short stature, reduced or unchanged interpedicular distances in the lumbar spine, disproportionately long fibulae, and squared and shortened pelvic ilia. These were significantly more severe in the G380R patients than in the N540K patients. Our findings have shown a firm statistical correlation between the genotype and the phenotype, although there were a few exceptional cases in which there was phenotypic overlap between the two conditions

Two types of fracture, early and late, have been reported following limb lengthening in patients with achondroplasia (ACH) and hypochondroplasia (HCH). . We reviewed 25 patients with these conditions who underwent 72 segmental limb lengthening procedures involving the femur and/or tibia, between 2003 and 2011. Gender, age at surgery, lengthened segment, body mass index, the shape of the callus, the amount and percentage of lengthening and the healing index were evaluated to determine predictive factors for the occurrence of early (within three weeks after removal of the fixation pins) and late fracture (> three weeks after removal of the pins). The Mann‑Whitney U test and Pearson’s chi-squared test for univariate analysis and stepwise regression model for multivariate analysis were used to identify the predictive factor for each fracture. Only one patient (two tibiae) was excluded from the analysis due to excessively slow formation of the regenerate, which required supplementary measures. A total of 24 patients with 70 limbs were included in the study. There were 11 early fractures in eight patients. The shape of the callus (lateral or central callus) was the only statistical variable related to the occurrence of early fracture in univariate and multivariate analyses. Late fracture was observed in six limbs and the mean time between removal of the fixation pins and fracture was 18.3 weeks (3.3 to 38.4). Lengthening of the tibia, larger healing index, and lateral or central callus were related to the occurrence of a late fracture in univariate analysis. A multivariate analysis demonstrated that the shape of the callus was the strongest predictor for late fracture (odds ratio: 19.3, 95% confidence interval: 2.91 to 128). Lateral or central callus had a significantly larger risk of fracture than fusiform, cylindrical, or concave callus. Radiological monitoring of the shape of the callus during distraction is important to prevent early and late fracture of lengthened limbs in patients with ACH or HCH. In patients with thin callus formation, some measures to stimulate bone formation should be considered as early as possible. Cite this article: Bone Joint J 2014;96-B:1269–73

A thoracolumbar gibbus is an uncommon but potentially dangerous feature of achondroplasia. In a series of unselected South African Negro achondroplasts, nine out of 17 had an abnormality of this type. In contrast, only one girl out of 20 affected individuals of European or mixed ancestry had a gibbus. It is likely that the high frequency of this deformity in South African Negro achondroplasts is the result of the traditional practice by which an infant is carried on the mother's back, with the legs straddling her waist and the spine in flexion. Wedging on the vulnerable vertebral bodies in the Negro achondroplastic infant can probably be prevented by avoiding this custom

Lack of full extension of the elbow is a common abnormality in patients with achondroplasia. We studied 23 patients (41 elbows) clinically and radiologically. Extension of the elbow was assessed clinically and the angle of posterior bowing of the distal humerus was measured from lateral radiographs. There was limited extension of the elbow in 28 (68.3%) and the mean loss of extension was 13.1°. Posterior bowing of the humerus was seen in all elbows with a mean angle of 17.0°. There was a positive correlation between these two measurements. Posterior bowing greater than 20° caused a loss of full elbow extension. Posterior dislocation of the radial head was seen in nine elbows (22.0%). The mean loss of extension of the elbows was 28.7° which was significantly greater than that of these elbows in which the head was not dislocated (8.7°), although posterior bowing was not significantly different between these two groups (19.3° and 16.3°). Posterior bowing of the distal humerus is a principal cause of loss of extension of the elbow. Posterior dislocation of the radial head causes further limitation of movement in the more severely affected joints

Extensive limb lengthening may be indicated in achondroplastic patients who wish to achieve a height within the normal range for their population. However, increasing the magnitude of lengthening is associated with further complications particularly adjacent joint stiffness and fractures. We studied the relationship between the magnitude of femoral lengthening and callus pattern, adjacent joint stiffness and fracture of the regenerate bone in 40 femoral lengthenings in 20 achondroplastic patients. They were divided into two groups; group A had lengthening of less than 50% and group B of more than 50% of their initial femoral length. The patterns of radiological callus formation were classified according to shape, type and features. The incidence of callus features, knee stiffness and regenerate bone fracture were analysed in the two groups. Group B was associated with an increased incidence of concave, lateral and central callus shapes, adjacent joint and stiffness and fracture. Statistically, the incidence of stiffness in adjacent joints and regenerate bone fracture was significantly associated with the magnitude of lengthening.

We suggest that careful radiological assessment of the patterns of callus formation is a useful method for the evaluation and monitoring of regenerate bone.

A retrospective study was performed in 18 patients with achondroplasia, who underwent bilateral humeral lengthening between 2001 and 2013, using monorail external fixators. The mean age was ten years (six to 15) and the mean follow-up was 40 months (12 to 104). . The mean disabilities of the arm, shoulder and hand (DASH) score fell from 32.3 (20 to 40) pre-operatively to 9.4 (6 to 14) post-operatively (p = 0.037). A mean lengthening of 60% (40% to 95%) was required to reach the goal of independent perineal hygiene. One patient developed early consolidation, and fractures occurred in the regenerate bone of four humeri in three patients. There were three transient radial nerve palsies. Humeral lengthening increases the independence of people with achondroplasia and is not just a cosmetic procedure. Cite this article: Bone Joint J 2015;97-B:1577–81

Aims

The aim of this study was to compare outcomes after growth-friendly treatment for early-onset scoliosis (EOS) between patients with skeletal dysplasias versus those with other syndromes.

Aims

Temporary hemiepiphysiodesis (HED) is applied to children and adolescents to correct angular deformities (ADs) in long bones through guided growth. Traditional Blount staples or two-hole plates are mainly used for this indication. Despite precise surgical techniques and attentive postoperative follow-up, implant-associated complications are frequently described. To address these pitfalls, a flexible staple was developed to combine the advantages of the established implants. This study provides the first results of guided growth using the new implant and compares these with the established two-hole plates and Blount staples.

Aims

As an alternative to external fixators, intramedullary lengthening nails (ILNs) can be employed for distraction osteogenesis. While previous studies have demonstrated that typical complications of external devices, such as soft-tissue tethering, and pin site infection can be avoided with ILNs, there is a lack of studies that exclusively investigated tibial distraction osteogenesis with motorized ILNs inserted via an antegrade approach.

Aims

The aim of this retrospective cohort study was to assess and investigate the safety and efficacy of using a distal tibial osteotomy compared to proximal osteotomy for limb lengthening in children.

Radiological and histological examinations are described in a full term stillborn infant with punctate epiphysial dysplasia diagnosed in utero as achondroplasia

We describe a technique for slow, progressive, symmetrical distraction of the growth plate using a lightweight dynamic axial fixation system. Results are given for the elongation of 40 bony segments in children with limb-length discrepancies and 60 segments in children with achondroplasia or hypochondroplasia. Increases in limb length of up to 36% were obtained in non-achondroplastic and up to 64.5% in achondroplastic patients. There were no nerve or vascular lesions or bony infections and no case required a bone graft. Pin-track complications occurred in only 1.5%

Aims

The STRYDE nail is an evolution of the PRECICE Intramedullary Limb Lengthening System, with unique features regarding its composition. It is designed for load bearing throughout treatment in order to improve patient experience and outcomes and allow for simultaneous bilateral lower limb lengthening. The literature published to date is limited regarding outcomes and potential problems. We report on our early experience and raise awareness for the potential of adverse effects from this device.

Three elderly sibling dwarfs are reported from a large and otherwise normal family. Their condition is an unusual and irregular form of cartilaginous defect, combined with club-feet, and bearing some resemblance to the Morquio type. A brief consideration of the literature of the generahised developmental bony syndromes shows confusion of thought and nomenclature. A plea is therefore made for simplification and a rational and simple grouping of these conditions is attempted. It seems particularly desirable that many confusing names for particular syndromes should be scrapped (for example, dyschondroplasia, chondro-osteodystrophy), although quite evidently the terms achondroplasia and osteogenesis imperfecta must remain because of their long-standing and general usage. Incidentally I have suggested elsewhere (Jackson 1951) that the name cleido-cranial dysostosis should be dropped, because it tends to lead the investigator away from the clinically more important lesions in the teeth and the cartilage bones of the pelvis and legs. It seems reasonable to confine the nomenclature of these various syndromes to the names used in the above classification, or something on those lines