Search Results - "Parnell, Shawn E"
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Skeletal Muscle Edema in Muscular Dystrophy: Clinical and Diagnostic Implications
Published in Physical medicine and rehabilitation clinics of North America (01-02-2012)“…Muscle degeneration in muscular dystrophies often includes a period of edema before fatty replacement of muscle tissue. Magnetic resonance imaging (MRI) has…”
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Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy
Published in Frontiers in pediatrics (22-06-2015)“…We present two siblings affected with opsismodysplasia (OPS), a rare skeletal dysplasia caused by mutations in the inositol polyphosphate phosphatase-like 1…”
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Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt
Published in Journal of medical genetics (01-06-2016)“…Retinitis pigmentosa in combination with hearing loss can be a feature of different Mendelian disorders. We describe a novel syndrome caused by biallelic…”
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Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?
Published in American journal of medical genetics. Part A (01-01-2016)“…Children with achondroplasia have midface hypoplasia, frontal bossing, spinal stenosis, rhizomelia, and a small foramen magnum. Central sleep apnea, with…”
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Imaging in pediatric small bowel transplantation
Published in The Indian journal of radiology & imaging (01-10-2014)“…Small bowel transplantation, alone or with other organs as multivisceral transplantation, is performed for patients with chronic intestinal failure. With…”
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Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy
Published in American journal of medical genetics. Part A (01-01-2016)“…Achondroplasia is the most common inherited disorder of bone growth (skeletal dysplasia). Despite this fact, consistent and evidence‐based management…”
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Ultrasound-guided joint injections for MR arthrography in pediatric patients: how we do it
Published in Pediatric radiology (01-03-2015)“…In children, MR arthrography is typically performed using fluoroscopic guidance. This article explores the role of US-guided joint injections as an alternative…”
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Interactive digital atlas of skeletal surveys for common skeletal dysplasias
Published in Pediatric radiology (01-07-2013)“…Background Skeletal dysplasias are conditions of abnormal bone and cartilage growth resulting in short stature. Developing expertise in the radiographic…”
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Focal Benign Disorders of the Pediatric Mandible With Radiologic-Histopathologic Correlation: Mandibular Development and Lucent Lesions
Published in American journal of roentgenology (1976) (01-01-2017)“…Lucent lesions of the pediatric mandible may present variably. Cysts, neoplasms, and developmental and inflammatory conditions have a host of possible causes…”
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Erratum to: Ultrasound-guided joint injections for MR arthrography in pediatric patients: how we do it
Published in Pediatric radiology (01-08-2015)Get full text
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Vertical expandable prosthetic titanium rib (VEPTR): a review of indications, normal radiographic appearance and complications
Published in Pediatric radiology (01-04-2015)“…Vertical expandable prosthetic titanium rib (VEPTR) is increasingly used in the treatment of thoracic insufficiency, idiopathic and neuromuscular scoliosis and…”
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Neonatal skeletal dysplasias
Published in Pediatric radiology (2012)“…Skeletal dysplasias are a large diverse group of disorders characterized by abnormal bone and cartilage growth. Approximately one-quarter of them are…”
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Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III
Published in Acta neuropathologica (01-04-2011)“…Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic types. MOPD…”
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Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?"
Published in American journal of medical genetics. Part A (01-04-2016)Get full text
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Pediatric intestinal transplantation: normal radiographic appearance and complications
Published in Pediatric radiology (01-08-2011)“…We present a pictorial essay on pediatric intestinal transplantation that describes the indications for pediatric intestinal transplantation, surgical…”
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Pseudointercondylar notch sign: manifestation of osteochondritis dissecans of the trochlea
Published in Pediatric radiology (01-02-2009)“…Osteochondritis dissecans (OCD) is an idiopathic condition affecting the articular epiphysis. Initially described in the knee, this entity affects several…”
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EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis
Published in Skeletal radiology (01-05-2012)“…Metachondromatosis (MC) and hereditary multiple osteochondromas (HMO) are thought to be distinct disorders, each with characteristic x-ray and clinical…”
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Pediatric emergencies of the upper and lower airway
Published in Applied radiology (1976) (01-04-2012)“…Contusions greater than one third of the lung may require mechanical ventilation.22 Pleural injuries Pneumothoraces in the setting of blunt chest trauma may…”
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