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85 Possible Causes for Postural Defect, Skeletal Dysplasia

  • Cleidocranial Dysplasia

    In this context, disturbed development of vertebrae, poor posture due to abnormal curvature of the spine as well as syringomyelia have been described.[] Cleidocranial dysostosis (CCD) is a rare skeletal dysplasia with predominantly membranous bone involvement. It carries an autosomal dominant inheritance 4.[] Cleidocranial dysplasia (CCD) is an autosomal dominant disorder that presents with skeletal dysplasia.[]

  • Skeletal Dysplasia

    Spine deformation may result in abnormal posture, but also in paraparesis or quadriparesis.[] DEVELOPMENT AND ENDOCHONDRAL OSSIFICATION CELLULAR PROCESSES THAT CONTRIBUTE TO NORMAL SKELETAL GROWTH AND SKELETAL DYSPLASIA THE SKELETAL DYSPLASIAS THE GENETICS OF SKELETAL[] Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature.[]

  • Cockayne Syndrome

    It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[] American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal[]

  • Primary Optic Atrophy

    Some patients with Leber hereditary optic neuropathy have cardiac conduction defects.[] Other patients have minor neurologic abnormalities, such as a postural tremor, loss of ankle reflexes, dystonia, spasticity, or a multiple sclerosis–like illness.[]

  • Noonan Syndrome

    Variants in BRAF, MAP2K1, MAP2K2, and KRAS have been identified in individuals with cardiofaciocutaneous (CFC) syndrome, a condition involving congenital heart defects, cutaneous[] Taybi H (1990) Radiology of syndromes, metabolic disorders and skeletal dysplasias. 3rd edn. Year Book, Chicago, pp 337–338 Google Scholar 14.[] Skeletal dysplasia was proven to be secondary to a disorder of RAS-mitogen activated protein kinase (MAPK) pathway which is essential for regulation of cell differentiation[]

  • Hyporeninemic Hypoaldosteronism

    Symptoms and Signs Symptoms of hypoaldosteronism include anorexia, asthenia, weight loss, hyperpigmentation and postural hypotension.[] Isolated defects of aldosterone biosynthesis are rare, but partial defects are an aspect of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.[] Causes The main causes of hypoaldosteronism are hyporeninemic hypoaldosteronism, primary adrenal insufficiency or an adrenal enzyme defect and pseudohypoaldosteronism, a rare[]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    […] muscle atrophy Alpha-1-antitrypsin deficiency Alpha-crystallinopathy Anaplastic ependymoma Aniridia - cerebellar ataxia - intellectual deficit Athyreosis Atrial septal defect[] Although the number of individuals observed is small, the high incidence of cervical spine deformation in SMMD is unique among skeletal dysplasias.[] Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is an autosomal recessive skeletal dysplasia, characterized by disproportionate short stature with a short and stiff neck[]

  • Scoliosis

    The Schroth method has been shown to positively influence the Cobb angle, vital capacity, strength and postural defects in AIS [ 31 ].[] Mutation screening was undertaken in the two affected siblings using a customized skeletal dysplasia next generation sequencing (NGS) panel and confirmed by Sanger sequencing[] Marfan disease ) neurofibromatosis type 1 skeletal dysplasias (e.g. achondroplasia ) neuromuscular scoliosis Chiari malformations cerebral palsy diastematomyelia muscular[]

  • Craniodiaphyseal Dysplasia

    In some cases, a postural defect in the metaphyses may also be noted.[] European skeletal dysplasia network (ESDN). 2003-2010. (accessed April 16, 2015). International skeletal dysplasia society (ISDS). 2004-2015.[] defect in the metaphyses Some of the complications of CDD are severe facial deformity, facial diplegia, complete hearing inability, nasolacrimal obstruction, quadriparesis[]

  • Spondylolisthesis

    A defect in pars interarticularis leads to this form. Hyperextended posture is the common cause.[] In a skeletally immature patient, the lumbosacral kyphosis has been suggested to be the most useful predictor of progression.[] Spondylolisthesis is common in athletes and gymnasts as a result of hyperextended postures.[]

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