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143 Possible Causes for Postural Defect, Skeletal Dysplasia

  • 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[news-medical.net] Dysplasia Society , Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.medscape.com] College of Medical Genetics and Genomics , American Medical Association , American Society of Human Genetics , Society for Inherited Metabolic Disorders , International Skeletal[emedicine.medscape.com]

  • Craniodiaphyseal Dysplasia

    In some cases, a postural defect in the metaphyses may also be noted.[primehealthchannel.com] The advances referred to in this chapter, particularly molecular genetics and database access, have transformed the diagnosis of skeletal dysplasias.[books.google.de] The authors also have had available data from the University of Cape Town Skeletal Dysplasia Registry.[books.google.de]

  • Cerebrooculofacioskeletal Syndrome Type 4

    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[news-medical.net] dysplasia terminology and diag nosis, and has proved of immense value to its users.[books.google.de] Platyspondylic lethal skeletal dysplasia, Torrance type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene...[onlymyhealth.com]

  • Cerebro-Oculo-Facio-Skeletal Syndrome 1

    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[news-medical.net] […] sequence Celosomial monster Cerebro-costo-mandibular syndrome Cerebrofacial dysplasia Cerebro-oculo-facio-skeletal syndrome Charge association Charge syndrome Child syndrome[icd9data.com] […] syndrome with unusual brain and/or neuromuscular findings Multiple malformation syndrome, moderate short stature, facial Multiple malformation syndrome, small stature, without skeletal[icd9data.com]

  • PIBIDS 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[news-medical.net] […] sequence Celosomial monster Cerebro-costo-mandibular syndrome Cerebro-oculo-facio-skeletal syndrome Cerebrofacial dysplasia Child syndrome Chimera Chronic infantile neurological[emedcodes.com] […] sequence Celosomial monster Cerebro-costo-mandibular syndrome Cerebrofacial dysplasia Cerebro-oculo-facio-skeletal syndrome Charge association Charge syndrome Child syndrome[icd9data.com]

  • Osteitis

    The most important single measure has been the correction, where possible, of obvious postural defects.[medigoo.com] Monostotic Polyostotic Skeletal fluorosis bone cyst Aneurysmal bone cyst Hyperostosis Infantile cortical hyperostosis Osteosclerosis Melorheostosis Pycnodysostosis Joint[en.wikipedia.org] This training was continued until such time as the correct posture could be maintained by the patient without conscious muscular effort, - usually six months to one year.[medigoo.com]

  • Skeletal Dysplasia

    Spine deformation may result in abnormal posture, but also in paraparesis or quadriparesis.[symptoma.com] Skeletal dysplasias or dysostosis are classified with more than 400 different names.[ncbi.nlm.nih.gov] The fetuses with skeletal dysplasia were subdivided into two groups based on the specific diagnosis: skeletal dysplasias with a short trunk and skeletal dysplasias with a[ncbi.nlm.nih.gov]

  • Cutis Laxa

    Dystonic posturing was discriminatory for PYCR1 and ALDH18A1 defects. Metabolic markers of mitochondrial dysfunction were found in one patient with PYCR1 mutations.[ncbi.nlm.nih.gov] In contrast, Menkes disease, at the more severe end of the spectrum, shows severe neuromotor delay and a metaphyseal skeletal dysplasia with growth retardation in addition[cmgg.be] In: Papdatos CJ and Bartsocas CS (eds) Progress in Clinical and Biological Research, 104: Skeletal Dysplasias.[scielo.br]

  • Osteitis Condensans Ilii

    The most important single measure has been the correction, where possible, of obvious postural defects.[medigoo.com] *Fibrodysplasia ossificans progressiva *Fibrous dysplasia *Giant cell tumor… … Wikipedia[medicine.academic.ru] Monostotic Polyostotic Skeletal fluorosis bone cyst Aneurysmal bone cyst Hyperostosis Infantile cortical hyperostosis Osteosclerosis Melorheostosis Pycnodysostosis Joint[en.wikipedia.org]

  • Noonan Syndrome 1

    Variants in BRAF, MAP2K1, MAP2K2, and KRAS have been identified in individuals with cardiofaciocutaneous (CFC) syndrome, a condition involving congenital heart defects, cutaneous[mayomedicallaboratories.com] 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[bone-abstracts.org] Costello syndrome, which is characterized by coarse facies, short stature, distinctive hand posture and appearance, severe feeding difficulty, failure to thrive, cardiac anomalies[mayomedicallaboratories.com]

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