achondroplasia/ضعف

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14 النتائج

Successful Mechanical Thrombectomy Using Solumbra Technique In a 35-year-old Man With Achondroplasia: a case report.

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Achondroplasia is one of the most common types of dwarfism and is inherited as an autosomal dominant disease. The patients with achondroplasia suffer from various complications such as craniofacial, central nervous system, spinal, respiratory and cardiac

Surgical decompression for lumbar stenosis in pediatric achondroplasia.

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BACKGROUND Spinal stenosis is a common complication of achondroplasia. To our knowledge, no study has evaluated a greater than 2-year outcome after surgical intervention for spinal stenosis in such children or compared decompression with and without instrumentation in relation to revision surgery.

[A case of achondroplasia showing diffuse spinal canal stenosis].

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A rare case of achondroplasia showing diffuse spinal canal stenosis is presented. A 39-year-old woman was admitted to our hospital because of numbness of lower extremities and intermittent claudication. The patient's height was 121cm and she had the typical clinical features of an achondroplastic

Posterior osteotomy and instrumentation for thoracolumbar kyphosis in patients with achondroplasia.

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METHODS A retrospective case series of surgically treated achondroplastic patients with severe thoracolumbar kyphosis. OBJECTIVE To evaluate the outcome of surgical treatment for thoracolumbar kyphosis in patients associated with achondroplasia presenting with paraparesis. BACKGROUND Thoracolumbar

[Neurosurgical aspects in achondroplasia: evaluation and treatment].

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Achondroplasia is the most common genetic disorder associated with bone dysplasia. The mode of inheritance is autosomal dominance, while most cases appear to represent a new mutation. Achondroplastic patients suffer from dwarfism, and from typical features of the head and limbs (rhizomelia,

Early presentation of spinal stenosis in achondroplasia.

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One third of patients with achondroplasia develop spinal stenosis requiring surgical intervention. However, this condition rarely develops before the age of 15 years. The goal of the current study was to identify anatomical factors and clinical symptoms associated with early presentation of lumbar

Narrowing of thoraco-lumbar spinal canal in achondroplasia.

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The incidence of neurological deficits in achondroplastic subject is by no means negligible. We considered the clinico-radiological and therapeutic data of 35 achondroplasic patients (5 personal cases and 30 published in the available literature) harbouring myelo-radicular deficits related to

Thoracic spine Langerhans cell histiocytosis in a child with achondroplasia.

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Multifocal bone Langerhans cell histiocytosis (LCH) is usually treated with prednisolone and vinblastine. We present a case conservatively treated with indomethacin with good clinical and radiological response. A 7-year-old achondroplastic boy presented with worsening thoracic back pain and leg

Neurogenic claudication associated with posterior vertebral rim fractures in children.

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OBJECTIVE Outside of the patient population with achondroplasia, neurogenic claudication is rare in the pediatric age group. Neurogenic claudication associated with posterior vertebral rim fracture is even more uncommon but nonetheless causes pain and disability in affected children and adolescents.

An achondroplasic case with foramen magnum stenosis, hydrocephaly, cortical atrophy, respiratory failure and sympathetic dysfunction.

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BACKGROUND Achondroplasia is a relatively frequent genetic disorder that may lead to limb weakness, motor-mental retardation, hydrocephaly, and respiratory disorders. In this pathology, foramen magnum stenosis and accompanying disorders like respiratory depression is well documented. METHODS A 2.5

Cervical instability in skeletal dysplasia. Report of 6 surgically fused cases.

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Six patients with skeletal dysplasias complicated by deformity or instability of the cervical spine were reviewed. Three patients had congenital spondyloepiphyseal dysplasia and 1 each suffered from Morquio's syndrome, pseudoachondroplasia, and chondrodystrophia calcificans congenita. Four patients

Spinal decompression in achondroplastic patients using high-speed drill versus ultrasonic bone curette: technical note and outcomes in 30 cases.

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BACKGROUND This manuscript describes the clinical and operative characteristics of achondroplastic children who undergo multilevel thoracolumbar decompressions using either the high-speed drill or the ultrasonic bone curette (BoneScalpel). METHODS We retrospectively reviewed 30 thoracolumbar

From Horus the child to Hephaestus who limps: a romp through history.

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The question of why Hephaestus, the Greek god of smiths, limped has been the subject of much debate, mainly on mythological grounds. This debate extended also into the field of medical diagnosis, with attempts at defining the nature of the deformity that made the crippled Hephaestus the buffoon of

[Myelopathy caused by hypertrophy of the posterior longitudinal ligament of the cervical spine in a patient with long-term hemodialysis].

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A 48-year-old female was admitted to our hospital because of progressive gait deterioration over a period of 4 months. She had been treated by hemodialysis for 14 years after bilateral nephrectomy. She originally suffered achondroplasia. Otherwise she was a healthy woman. Neurological examination

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