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19 Possible Causes for Abnormal Spine X-Ray, Arthralgia, Severely Disproportionate Short Stature

  • Pseudoachondroplasia

    Lateral flexion-extension x-rays of the cervical spine is recommended, if a pre-existing abnormality such as os odontoideum or hypoplastic odontoid is present.[web.archive.org] Bideci, Öznur Boyunağa, Aylin Kılınç Uğurlu, Emine Demet Akbaş, Orhun Çamurdan & Peyami Cinaz Aim: Pseudoacondroplasia is a short extremity dwarfism characterized by lifelong arthralgia[abstracts.eurospe.org] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    Figure 1 X-rays of some of the cases described.[ojrd.biomedcentral.com] short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof 0003180 Irregular[rarediseases.info.nih.gov] AD brachyolmia was considered, based on the literature [ 8 ], as a condition affecting only the spine, with platyspondyly and vertebral abnormalities, but no metaphyseal changes[ojrd.biomedcentral.com]

  • Osteogenesis Imperfecta

    […] bone disease by taking X-rays.[healthline.com] Individuals with OI may also have scoliosis, early onset arthritis, noninflammatory arthralgias and myofascial pain. Skin. Easy bruising is a frequent observation in OI.[ncbi.nlm.nih.gov] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org]

  • X-Linked Spondyloepiphyseal Dysplasia Tarda

    X-rays of the spine and pelvis of her 8-year-old son revealed characteristic changes of SEDT, but her younger sons (aged 6 years and 3 years) showed no abnormalities.[ncbi.nlm.nih.gov] These women seem to be troubled frequently by arthralgia by middle age.[ncbi.nlm.nih.gov] Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong[monarchinitiative.org]

  • Dyggve-Melchior-Clausen Syndrome

    Digital x-ray of the spine, pelvis, chest and knees together with magnetic resonance imaging of the entire spinal column were done.[omicsonline.org] Here, we report two cases with DMC: one with disproportionate short stature, developmental delay, and severe ID with a novel frameshift mutation (c.1028_1056del29) leading[ncbi.nlm.nih.gov] X-rays features include wide flaring of the ilium, shallow acetabula, flattening of femoral heads, coxa and genu valga, and dysostosis multiplex, while skeletal abnormalities[omicsonline.org]

  • Kniest Dysplasia

    After birth by: Observation of common physical characteristics X-rays What are common characteristics of Kniest Dysplasia?[littlepeopleuk.org] There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery.[jmg.bmj.com] Short stature Short trunk Shortened arms and legs Large joints Progressive abnormal curvature of the spine (kyphoscoliosis and lordosis) (differing severity) Flattened vertebrae[littlepeopleuk.org]

  • Growth Failure

    Lateral skull : midface hypoplasia, frontal prominence Spine : abnormally narrow interpedicular distance spinal canal stenosis ; scoliosis Extremities: bones are short and[amboss.com] […] known hypersensitivity to somatropin or excipients. 33 The most frequently observed adverse reactions include injection site reactions/rashes and fluid retention (ie, edema, arthralgia[cmecorner.com] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net]

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    Digital x-ray of the spine, pelvis, chest and knees together with magnetic resonance imaging of the entire spinal column were done.[omicsonline.org] […] dislocation Hypoplastic iliac wing Autosomal recessive inheritance Metaphyseal dysplasia Blue sclerae Vertebral segmentation defect Intellectual disability Recurrent fractures Arthralgia[mendelian.co] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[orpha.net]

  • Platyspondyly

    […] postnatal abnormal spine curvature X-ray Shape of spine WTSI IMPC 6.36E-5 Wdr37 Wdr37 tm1a(KOMP)Wtsi HOM postnatal abnormal spine curvature X-ray Shape of spine WTSI IMPC[mousephenotype.org] […] wings Short long bone Hoarse voice Coxa valga Unsteady gait Limb muscle weakness Difficulty walking Joint stiffness Muscle weakness Small forehead Flattened femoral head Arthralgia[mendelian.co] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co]

  • Skeletal Dysplasia

    Many different skeletal dysplasias have abnormalities of the spine, metaphyses, and epiphyses apparent on x-ray.[ncbi.nlm.nih.gov] A history of Zika virus infection was suspected when the mother was 20 weeks and 4 days pregnant due to clinical manifestations described as arthralgia during 10 days, moderate[scielo.br] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org]

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