Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The deformation of the posterior part of the skull (occipito-vertebral region), induced directly or indirectly, occurs in numerous pathological situations. Its significance is frequently overlooked. Lesions of the cranial content, alterations of the lambdoid suture or other premature synostosis, abnormal constraint related to posture or to muscular activity can modify the posterior curvature of the skull, generally flattening it. The authors propose a classification based on three points: -Intracranial pathology: alterations of the brain or CSF fluid can induce either insufficient (microencephaly) or excessive (hydrocephalus, Dandy Walker or Arnold Chiari malformations) expansion. -Bone pathology: craniosynostosis: sagittal synostosis (scaphocephaly) induces a bulging and coronal synostosis a flatness of the posterior skull. Bilateral premature lambdoid synostosis (pachycephaly) produces total flatness of the back of the skull. -Extrinsic pathology: dysmorphism is often asymmetrical and results from extracranial mechanical application dysfunction such as inborn torticollis, cervical spine pathology (Klippel-Feil syndrome), or prolonged decubitus during the first year of life. The authors describe a personal technique for correcting this dysmorphism: the turned biparietal flap transposition. The back of the skull is remodelled (either asymmetrical or bilateral flatness), and patients with no need for a helmet can lie on their backs immediately after the operation.
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PMID:[The posterior part of the skull. Classification of dysmorphism. Original treatment: turned biparietal flap transposition]. 852 42

The deformation of the posterior part of the skull (occipito-vertebral region) induced directly, occurs in numerous pathological situations. Its significance is frequently overlooked. Lesions of the cranial content, alterations of the lambdoid suture or other premature synostosis, abnormal constraint related to posture or to muscular activity can modify the posterior curvature of the skull, generally flattening it. The authors propose a classification based on three points: intracranial pathology, bone pathology and extrinsic pathology. Concerning intracranial pathology, alterations of the brain or CSF fluid can induce either insufficient (microencephaly) or excessive (hydrocephalus, Dandy Walker or Arnold Chiari malformations) expansion. Concerning bone pathology, sagittal synostosis (scaphocephaly) induces a bulging and coronal synostosis a flatness of the posterior skull. Bilateral premature lambdoid synostosis (pachycephaly) produces total flatness of the back of the skull. Concerning extrinsic pathology, dysmorphism is often asymmetrical and results from extracranial mechanical application dysfunction such as inborn torticollis, cervical spine pathology (Klippel-Feil syndrome), or prolonged decubitus during the first year of life. The different surgical procedures are described and the authors describe a personal technique for correcting this dysmorphism: the turned biparietal flap transposition. The back of the skull is remodelled (either asymmetrical or bilateral flatness), and patients with no need for a helmet can lie on their backs immediately after the operation.
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PMID:[The posterior cranium and its dysmorphisms]. 976 16

In this review a new interpretation of the origin of bony developmental malformations affecting the craniocervical junction and the cervical spine is presented based on recent advances in the understanding of embryonic development of the spine and its molecular genetic control. Radiographs, CT and MRI scans or CT myelograms of patients with Klippel-Feil syndrome were used for demonstration. Detailed clinical and radiological analysis of these patients was published earlier [David KM, Stevens JM, Thorogood P, Crockard HA. The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology. Neurosurg Focus 1999;6(6):1.]. Homeotic transformation due to mutations or disturbed expression of Hox genes is a possible mechanism responsible for Cl assimilation. Notochordal defects and/or signalling problems, that result in reduced or impaired Pax-1 gene expression, may underlie vertebral fusions. This, together with asymmetrical distribution of paraxial mesoderm cells and a possible lack of communication across the embryonic mid-line, could cause the asymmetrical fusion patterns. The wide and flattened shape of the fused vertebral bodies, their resemblance to the embryonic cartilaginous vertebrae and the process of progressive bony fusion with age suggest that the fusions occur before or, at the latest, during chondrification of vertebrae. The authors suggest that the aforementioned mechanisms are likely to be, at least in part, responsible for the origin of the bony developmental malformations affecting the craniocervical junction and the cervical spine.
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PMID:[Molecular genetic background of developmental bony malformations at the craniocervical junction and cervical spine]. 1220 Dec 33

The authors conducted a study to identify radiological patterns of Klippel-Feil syndrome (KFS), and they present a new interpretation of the origin of these patterns based on recent advances in understanding of embryonic development of the spine and its molecular genetic control. The authors studied radiographs and computerized tomography (CT) scans as well as magnetic resonance images or CT myelograms obtained in 30 patients with KFS who were referred for treatment between 1982 and 1996; the patients had complained of various neuroorthopedic complications. Homeotic transformation due to mutations or disturbed expression of Hox genes is a possible mechanism responsible for C-1 assimilation, which was found to have occurred in 19 cases (63%). Notochordal defects and/or signaling problems, which result in reduced or impaired Pax-1 gene expression, may underlie vertebral fusions. This, together with asymmetrical distribution of paraxial mesoderm cells and a possible lack of communication across the embryonic midline, could cause asymmetrical fusion patterns, which were present in 17 cases (57%). The wide and flattened shape of the fused vertebral bodies and their resemblance to the embryonic cartilaginous vertebrae as well as the process of progressive bone fusion with age suggest that the fusions occur before or, at the latest, during chondrification of vertebrae. The authors suggest that the aforementioned mechanisms are likely to be, at least in part, responsible for the observed patterns in KFS that affect the craniovertebral junction and the cervical spine.
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PMID:The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology. 1697 46

This report presents an obstetric patient with no significant past medical history who underwent spinal anaesthesia for a category-three caesarean section. On examination, she had asymmetrical scapular alignment and a mild scoliosis of the lumbar spine with no functional limitation. Postoperatively the patient developed neuropathic pain symptoms in the right leg which failed to resolve with conventional analgesia. Cervical and lumbar spine magnetic resonance imaging was performed resulting in a diagnosis of a low-lying tethered spinal cord terminating at the level of L5 and congenital fusion of the C7/T1 vertebrae. A tethered spinal cord is a rare condition, which in this case had been completely asymptomatic. However, we suggest that the patient displayed musculoskeletal signs not previously widely reported, which could have indicated the presence of a potential underlying neural tube defect. Based on the imaging findings and the presence of Sprengel's deformity, the patient was diagnosed with Klippel-Feil syndrome.
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PMID:Cord injury after spinal anaesthesia in a patient with previously undiagnosed Klippel-Feil syndrome. 3205 36