Although achondroplasia has been cited as the most common form of rhizomelic dwarfism, no report in the literature has given the data on the ratio of their upper and lower limb segments. We performed a paired study of 91achondroplasia patients with age and gender matched normal control group. Their upper and lower extremity radiographs were evaluated, and their radio-humeral and tibia-femoral ratios were compared. The ratios were compared using the Wilcoxon rank sum test. A p value of <0.05 was considered significant. The mean age of the patients was 15.8 years (95% confidence interval (CI), 13.1–18.6), and there were 45 males and 46 females. The radio-humeral ratio for the upper extremity of achondroplasia patients was 0.76 (95% CI, 0.75–0.76) which was significantly different from the normal control group of 0.79 (95% CI, 0.77–0.80) (p=0.001). The tibio-femoral ratio of the achondroplasia patients was 0.79 (95% CI, 0.78–0.79), which was not significantly different from the normal control group of 0.78 (95% CI, 0.77–0.79) (p=0.346). Rhizomelia is the predominant form of dwarfism in upper extremity, but not in lower extremity in achondroplasia. The functional deficits from these patients seem to come from the generalized limb shortness, and not specifically from rhizomelia

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

Introduction and Objective. Virtual Surgical Planning (VSP) is becoming an increasingly important means of improving skills acquisition, optimizing clinical outcomes, and promoting patient safety in orthopedics and traumatology. Pediatric Orthopedics (PO) often deals with the surgical treatment of congenital or acquired limbs and spine deformities during infancy. The objective is to restore function, improve aesthetics, and ensure proper residual growth of limbs and spine, using osteotomies, bone grafts, age-specific or custom-made hardware and implants. Materials and Methods. Three-dimensional (3D) digital models were generated from Computed Tomography (CT) scans, using free open-source software, and the surgery was planned and simulated starting from the 3D digital model. 3D printed sterilizable models were fabricated using a low-cost 3D printer, and animations of the operation were generated with the aim to accurately explain the operation to parents. All procedures were successfully planned using our VSP method and the 3D printed models were used during the operation, improving the understanding of the severely abnormal bony anatomy. Results. The surgery was precisely reproduced according to VSP and the deformities were successfully corrected in eight cases (3 genu varum in Blount disease, 2 coxa vara in pseudo achondroplasia, 1 SCFE, 1 missed Monteggia lesion and 1 post-traumatic forearm malunion deformity). In one case, a focal fibrocartilaginous dysplasia, the intraoperative intentional undersizing of the bone osteotomy produced an incomplete correction of a congenital forearm deformity. Conclusions. Our study describes the application of a safe, effective, user-friendly, VSP process in PO surgery. We are convinced that our study will stimulate the widespread adoption of this technological innovation in routine clinical practice for the treatment of rare congenital and post-traumatic limb deformities during childhood

Many studies describe the use of the Ilizarov ring fixator for lower limb lengthening and for the management of the 3-dimensional lower limb deformities in achondroplasia, and most confirm the efficacy of this technique. However, long term follow up of these achondroplastic patients is lacking. Most studies have focused on magnitude of lengthening, treatment time required and complications, but no study has analyzed the long term postoperative condition of these patients using an objective, functional method such as gait analysis. Nineteen (19) achondroplastic patients, 12 males and 7 females, aged 19–38 years (mean 27.3 y) who have undergone tibia and femur lengthening, using the Ilizarov method, at the age of 9–19 years (mean 12.6 y), were evaluated 5–19 years (mean 10.1 y) after their last surgery, using 3-dimensional gait analysis. Nineteen (19) normal, height-matched subjects were used as controls. The VICON Nexus 8 Camera System was used to accurately measure spatiotemporal characteristics (walking velocity, stride length, step length, cadence) and kinematics (range of motion) of lower limb joints. Statistical comparison of deformity parameters between achondroplastic patients and normal population was done using the student t- test. A level of p<0.05 was considered statistically significant. Walking velocity, step length and stride length were statistically significantly decreased (p<0.05) in achondroplastic patients compared to normal population values. The achondroplastic group presented with excessive anterior pelvic tilt (mean 21.9. o. ± 7.3), excessive pelvic rotation (range 28.7. o. ±7.8), decreased hip extension (mean 1.8. o. ±10.1) and decreased plantar flexion (mean 17.1. o. ±5.1) when compared to normal controls. There was no statistically significant difference in the knee kinematics between the operated achondroplastic patients and normal controls. The achondroplastic patients present decreased values in their spatiotemporal characteristics compared to the normal subjects because, despite the height gain, their lower limbs remain shorter. Their excessive anterior pelvic tilt is attributed to their lordosis. Their excessive forward pelvic rotation is an attempt to increase stride and step length. The decreased hip extension is due to their anterior pelvic tilt. The correction of these patients genu varum restored knee kinematics to normal. In order to address the hip and pelvis deformities a proximal femoral osteotomy should be considered. The Ilizarov method provides functional height gain and substantially corrects the three-dimensional lower limb deformities of achondroplastic patients especially around the knee joint but more planning needs to be implemented when the system is applied to correct the disease specific deformities of the hip and pelvis. Gait analysis is an objective tool that can be used to address these design issues

Summary Statement. Bilaretal epiphysiodesis of he neurocentral cartilages causes shortening of the sagittal length of the pedicles and a subsequent spinal stenosis at the operated segments, resembling that found in patients with achrondroplasia. Introduction. The introduction of pedicle screws in the immature spine may have implications for the growth of the vertebra. The effect of blocking the growth of neurocentral cartilage (NC) is not yet fully defined. Block hypothetically leads to a bilateral symmetrical alteration of the vertebral growth. Using an experimental animal model, our goal is to analyze if a bilateral epiphysiodesis of the NC using pedicle screws is able to induce narrowing of the spinal canal in the thoracolumbar spine. Experimental animals and Methods. A total of 24 domestic pigs were operated on by bilateral blocking of the NC using pedicle screws. The animals were divided into 4 groups depending on the level of blockage: A, low thoracic levels; B, thoracolumbar transitional hinge; C, upper lumbar spine; and D, blocking of the caudal lumbar level below L5 segment. Different morphological, morphometric and standard radiological parameters were analyzed at the thoracic and lumbar vertebrae of the animals. The deviation from the physiological parameters was established by comparing all parameters obtained in the NC-blocked animals with those acquired in 14 pigs without NC blocking. These animals were considered as the control group. Results. None of the animals that underwent NC epiphysiodesis showed asymmetrical spinal growth inducing deformities in the coronal plane. There was neither rotation nor wedging of the vertebral bodies. Whatever the level involved, NC epiphysiodesis caused shortening of the sagittal length of the pedicles and a subsequent decreasing of the antero-posterior diameter of the spinal canal. These features resulted in a frank spinal stenosis at the operated levels. However, the transverse diameter of the spinal canal was conserved in the coronal plane. In the sagittal plane, blocking of the neurocentral cartilage conditioned a lumbar hyperlordosis with compensatory kyphosis of the upper level to the operated vertebra. Conclusions. Symmetrical growth arresting of neurocentral cartilages induces a narrow spinal canal by decreasing the sagittal diameter similar to that observed in patients with achondroplasia. The most affected structure was the development of the vertebral pedicles

Objectives

The purpose of this study was to compare the results and complications of tibial lengthening over an intramedullary nail with treatment using the traditional Ilizarov method.