Tohru Futami

Bilateral humeral lengthening in achondroplasia

Twenty humeral lengthenings were done on 10 achondroplastic dwarfs using the Ilizarov circular fixator. There were five female and five male patients from 6 years 11 months to 17 years 8 months of age (mean, 12 years 10 months) at the time of the operation. Mean length obtained was 7.8 cm (range, 3.5 cm–10 cm). External fixation time ranged from 105 days to 368 days (mean, 221 days). Healing index averaged 30 days/cm (27 days/cm when two patients with radial nerve palsy were excluded). Two half pins in one patient required replacement. Two humeral fractures occurred, one while in the fixator and the other after removal of the apparatus. Transient radial nerve palsy developed during lengthening in two patients, and lengthening was discontinued. Symptoms of radial nerve palsy resolved completely in both patients, but one patient required an additional surgery to explore the radial nerve for persistent paresthesia of the forearm. Although preexisting loose shoulders deteriorate during lengthening and sometimes cause pain and discomfort, they always resolve spontaneously as lengthening proceeds. Bilateral humeral lengthening was very effective for improving function and overall proportion in patients with achondroplasia.

Sequential magnetic resonance imaging in slipped capital femoral epiphysis: assessment of preslip in the contralateral hip.

Thirty-three images using magnetic resonance imaging (MRI) in 10 patients with slipped capital femoral epiphysis were evaluated. The MRI of affected hips delineated typical widening of the physis. Sequential MRI demonstrated the process of premature closure of the physis developing from the posterior portion anteriorly. In 4 of the 10 asymptomatic contralateral hips, physeal widening was clearly observed in the center or posteromedial region of the physis on T1-weighted images. We performed prophylactic pinning for the four cases showing physeal widening on MRI, and none of the other cases developed a slip. MRI accurately documented detailed features of slips, as well as physeal changes, and may provide indicative information on prophylactic pinning for contralateral hips.

Femoral head volume indicates the severity of developmental dysplasia of the hip by a method using three-dimensional magnetic resonance imaging.

The aims of this study were to quantify the femoral head volume (FHV) in developmental dysplasia of the hip (DDH) and to estimate its relation with the severity of the disease. Fifty-one patients (age range 2–11 months) with unilateral DDH were evaluated using three-dimensional MRI. The relation among FHV, age, severity, and displacement was investigated. The affected FHV gradually decreased according to severity. Cephalad displacement of the femoral head correlated negatively with FHV. This new approach showed severity-dependent growth disturbance of the femoral head. This quantification is a promising technique for understanding the pathology of DDH.

The prevalence of the complications and their associated factors in humeral lengthening for achondroplasia: retrospective study of 54 cases.

The aim of this study is to evaluate the complications of humeral lengthening and their associated factors. Fifty-four achondroplastic patients were treated by bilateral humeral lengthening. Our original shoulder sling was sufficient to prevent shoulder dislocation. Pre-existing radial head dislocation was observed in 18 patients. Lengthening was accomplished in all cases without a decrease in the elbow function. Seven humeri fractured after the fixator removal. The risk factors for postoperative fracture were a waiting period of less than 5 days, a healing index less than 25, and the concave shape of the callus. There was no radial nerve palsy.

Treatment for unstable slipped capital femoral epiphysis: Current status and future challenge in Japan

BACKGROUND Treatment for unstable slipped capital femoral epiphysis (SCFE) is challenging and controversial. For many years, the debate centered around closed treatments and especially the pros and cons of manual reduction and its concrete procedure. However, recent studies reported on open treatments such as open reduction through an anterior approach and modified Dunn procedure. Being in a period of such transition, we investigated the current status and future challenge of treatment for unstable SCFE. METHODS A questionnaire survey of medical institutions specializing in pediatric hip disorders across Japan was conducted. Survey items were the accurate diagnosis of physeal stability, the pre- and intra-operative evaluation of epiphyseal hemodynamics, and current treatment strategy. RESULTS Survey responses returned from 29 out of 40 participant institutions (response rate: 73%) revealed that 55% of the institutions evaluated physeal stability based on clinical findings of ambulation capability in accordance with the Loder classification. Another 38% diagnosed physeal stability comprehensively by combining the Loder classification and imaging findings. Epiphyseal hemodynamics was assessed preoperatively in 18% of the institutions, effectively using angiography, contrast-enhanced magnetic resonance imaging (MRI), and bone scintigraphy. Intraoperative assessment was performed in 13% based on the bleeding through a drilling hole on the articular surface and observation of the cancellous bone color during open surgeries. As a treatment strategy, 52% of the institutions used in-situ fixation, while another 38% used manual reduction and internal fixation. On the other hand, open reduction was used at 3 institutions (the remaining 10%): the modified Dunn procedure at 2 institutions and arthrotomy at 1 institution. CONCLUSION Treatment for unstable SCFE remains controversial, but closed treatments without hemodynamic monitoring is no longer the center of the controversy. Today, the topic of the discussion is shifting toward how to correlate hemodynamic findings with treatment procedures and the indications for open treatments.

A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3

Gain-of-function mutations in the fibroblast growth factor receptor 3 gene (FGFR3) result in a group of skeletal dysplasias, such as prototypic achondroplasia (ACH: OMIM #100800) and lethal thanatophoric dysplasia (TD1: OMIM #187600). Hypochondroplasia (HCH: OMIM #146000) is the mildest of the FGFR3-associated skeletal dysplasias and is characterized by short stature with macrocephaly, brachydactyly, limited range of motion at the elbows, lumbar lordosis, and bowed legs. Radiological features of HCH are flared metaphyses, narrowed interpedicular distance, square ilia, and short femoral necks. These clinical and radiological signs are generally less pronounced than those seen with ACH and may not be noticeable until early or middle childhood. Because GH replacement is effective in some HCH patients (1, 2), genetic analysis to assist early diagnosis and intervention may improve the prognosis of these patients. Here, we present such an example and report the identification of a novel mutation in FGFR3 in a familial case of HCH and the effectiveness of GH treatment in the elder sister.

CINCA syndrome with surgical intervention for valgus deformity and flexion contracture of the knee joint: A case report

Chronic infantile neurological, cutaneous, and articular (CINCA) syndrome is a systemic autoinflammatory disease caused by increased production of interleukin (IL)-1β. We present a case of CINCA syndrome followed up to skeletal maturity. Joint contracture and valgus deformity of the knee had developed before diagnosis. Surgical interventions by soft tissue release and hemiepiphysiodesis improved the contracture and the deformity, and IL-1 receptor antagonist dramatically controlled systemic inflammation, and the patient lives without any disabilities.