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Calcifying aponeurotic fibroma is a rare, benign fibroblastic tumor. The lesion has a propensity for local invasion and a high recurrent rate. Therefore, accurate preoperative diagnosis and complete excision are important to prevent the recurrence of the tumor after surgical removal. However, radiographic and magnetic resonance imaging findings of(More)
Recent discoveries have established the existence of a family of skeletal dysplasias caused by dominant mutations in TRPV4. This family comprises, in order of increasing severity, dominant brachyolmia, spondylo-metaphyseal dysplasia Kozlowski type, and metatropic dysplasia. We tested the hypothesis that a further condition, Spondylo-epiphyseal dysplasia(More)
OBJECTIVE. The purpose of this study was to evaluate the prevalence, radiologic characteristics, and accuracy of diagnosing delaminated tears at the supraspinatus tendon-infraspinatus tendon (SST-IST) on indirect MR arthrography. MATERIALS AND METHODS. Of 531 consecutive shoulders that underwent indirect MR arthrography, 231 shoulders with tears at the(More)
We used exome sequencing of blood DNA in four unrelated patients to identify the genetic basis of metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA), a rare entity comprising severe chondrodysplasia, organic aciduria, and variable cerebral involvement. No evidence for recessive mutations was found; instead, two patients(More)
BACKGROUND As there is increased concern over the radiation exposure particularly in adolescents and young adults, computed tomography (CT) dose reduction is needed in the diagnosis of acute appendicitis. PURPOSE To evaluate the optimal strength of sinogram affirmed iterative reconstruction (SAFIRE) to obtain the best image quality on a 30-mAs applied(More)
Progressive pseudorheumatoid dysplasia (PPRD) is a rare, autosomal-recessive condition characterized by mild spondyloepiphyseal dysplasia (SED) and severe, progressive, early-onset arthritis due to WISP3 mutations. SED, Stanescu type, is a vaguely delineated autosomal-dominant dysplasia of unknown genetic etiology. Here, we report three individuals from two(More)
Meningeal melanocytoma is a rare benign tumor with relatively good prognosis. However, local aggressive behavior of meningeal melanocytoma has been reported, especially in cases of incomplete surgical resection. Malignant transformation was raised as possible cause by prior reports to explain this phenomenon. We present an unusual case of meningeal(More)
Desmoplastic fibroma is a rare benign primary bone tumor that is histologically similar to the soft tissue desmoid tumor. It most often involves the mandible, large long bone or iliac bone. Desmoplastic fibroma in a toe has been extremely rarely reported. Authors report a rare case of desmoplastic fibroma of bone occurring in the distal phalanx of a foot,(More)
To describe grayscale and color Doppler ultrasound features of subcutaneous intravascular papillary endothelial hyperplasia (IPEH). The ultrasound appearances of ten histologically proven subcutaneous IPEH in ten patients (age range, 15–69 years; mean age, 38.2 years; six females, four males) were reviewed retrospectively by two musculoskeletal(More)
Ischiospinal dysostosis (ISD) is a recently described entity characterized by ischial hypoplasia and spinal segmental anomalies. Nephroblastomatosis that may manifest radiologically as 'polycystic kidney disease' has been regarded as a syndromic constituent of ISD. We report two children with ISD associated with 'renal cystic disease'. One child had(More)