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602 Possible Causes for Kyphoscoliosis, Muscle Weakness, Round Face

  • Congenital Muscular Dystrophy

    KEYWORDS: Collagen; Fibrosis; IGF-1; Mesenchymal; Mouse; Muscular dystrophy; Skeletal muscles; Weakness[ncbi.nlm.nih.gov] Children born with CMD often have muscle weakness or ’floppiness’ and can also have stiffness of the joints, hip dislocation and a type of curvature of the spine known as ’kyphoscoliosis[santhera.com] Persons with UCMD commonly experience muscle weakness, kyphoscoliosis, hip dislocation at birth, prominent heel bones, hyper-pigmented skin lesions, hyper-extensible finger[disabled-world.com]

  • Mucopolysaccharidosis

    Compression of the cervical spinal cord, caused by glycosaminoglycan infiltration of the dura, may lead to spastic paresis if not corrected by neurosurgical intervention.[orpha.net] The unique skeletal features are distinguished by a disproportional short stature, odontoid hypoplasia, spinal cord compression, tracheal obstruction, pectus carinatum, kyphoscoliosis[ncbi.nlm.nih.gov] Nursing Diagnosis - Self care deficit related to inability to carryout ADLS / tremors - Impaired physical mobility related to weakness of bones and muscles - Risk for injury[slideshare.net]

  • Vitamin D Deficiency

    Apart from the well-known effects on bone metabolism, this condition is also associated with muscle weakness, predominantly of the proximal muscle groups.[ncbi.nlm.nih.gov] NIWA provides a year round daily guide of the UV throughout New Zealand.[health.govt.nz] This is due to the pulling in of the lower ribs by the diaphragmatic attachment. skull bossing curvature of the spine, leading to kyphoscoliosis generalized muscular weakness[news-medical.net]

  • X-Linked Hypophosphatemia

    Generalized muscle weakness is the most common symptom across all types of familial hypophosphatemia, while myalgia and fatigue are invariably present.[symptoma.com] face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de] Bone pains and proximal muscle weakness improve significantly; however, longitudinal growth in children remains unsatisfactory 1.[casereports.bmj.com]

  • Kniest Dysplasia

    Affected children may also exhibit diminished muscle tone (hypotonia) and muscle weakness, which, along with the spinal malformations, can result in delays in affected children[rarediseases.org] face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [[rarediseases.info.nih.gov] Musculoskeletal Problems Short limbs Shortened body trunk Flattened bones in the spine kyphoscoliosis Scoliosis (Lateral curvature of the spine) Early development of arthritis[en.wikipedia.org]

  • Schwartz-Jampel Syndrome

    554 Case 89A A Woman with Muscle Weakness and a Skin Rash 559 Case 90 A Man with Muscle Pains 567 Case 91 An Older Woman with Progressive Muscle Weakness 572 Case 92 An HIVInfected[books.google.com] […] back [ more ] 0002808 Mask-like facies Expressionless face Lack of facial expression Mask-like facial appearance [ more ] 0000298 Micrognathia Little lower jaw Small jaw[rarediseases.info.nih.gov] […] is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis[ncbi.nlm.nih.gov]

  • Congenital Fiber-Type Disproportion Myopathy

    The five children with severe weakness at birth had profound respiratory muscle weakness and needed assisted ventilation since early infancy.[ncbi.nlm.nih.gov] .  Facial dysmorphism is common and includes micrognathia, a round face with drooping of the lower lids, and prominent ears.  Skin changes can include follicular hyperkeratosis[slideshare.net] Clinical characteristics, including dysmorphic features such as hip dislocation, kyphoscoliosis, contracture, and high arch palate, were analyzed along with laboratory and[ncbi.nlm.nih.gov]

  • Progressive Pseudorheumatoid Dysplasia

    INTERPRETATION: The deficits can be attributed to pronounced muscle weakness plus functional joint impairment and pain.[ncbi.nlm.nih.gov] face Wide nose Multiple joint dislocation Vertebral clefting Renal cyst Pes planus Smooth philtrum Narrow chest Abnormality of the kidney Joint hyperflexibility Low-set,[mendelian.co] […] interphalangeal joints ; Enlarged metacarpophalangeal joints ; Enlargement of the proximal femoral epiphysis ; Flattened epiphysis ; Genu varum ; Joint stiffness ; Joint swelling ; Kyphoscoliosis[mousephenotype.org]

  • King Syndrome

    A physiotherapy department and its personnel might also assist a person with KDS with muscle weakness they experience.[disabled-world.com] “I used to go all round the country,” he says. “That experience, it’s the coal face, isn’t it?[qthemusic.com] We report on a patient with myopathy, kyphoscoliosis, joint contractures, and a facial appearance consistent with King syndrome.[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy Type Ullrich

    Ullrich disease is a form of congenital muscular dystrophy characterized clinically by generalized muscle weakness, contractures of the proximal joints, and hyperflexibility[ncbi.nlm.nih.gov] Some individuals with Ullrich CMD may have a distinctive facial appearance with a rounded face with prominent ears.[rarediseases.org] (後側弯症), non-invasive positive pressure ventilation(非侵襲的陽圧換気), Ullrich muscular dystrophy(ウールリッヒ型先天性筋ジストロフィー) Keyword: kyphoscoliosis(後側弯症), non-invasive positive pressure[webview.isho.jp]

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