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10 Possible Causes for Abnormal Spine X-Ray, Severely Disproportionate Short Stature, Shortened Long Tubular Bones

  • 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] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov] Definition A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower[uniprot.org]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    Figure 1 X-rays of some of the cases described.[ojrd.biomedcentral.com] […] disproportionately long fibulae, and shortening and cupping of short tubular bones (Figure 1b).[clinmedjournals.org] 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]

  • 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] Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies.[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] […] acetabular roof), metatropic dysplasia (OMIM 156530; mushrooming of the long tubular bones), and lethal metaphyseal chondrodysplasia (OMIM 250220; short ribs with splayed[journals.lww.com] 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] Shortened long tubular bones exhibit varied degrees of epiphyseal and metaphyseal changes... more \s b\ Spondyloepiphyseal dysplasia congenita (SED congenita) can involve[scinapse.io] Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong[monarchinitiative.org]

  • Kniest Dysplasia

    After birth by: Observation of common physical characteristics X-rays What are common characteristics of Kniest Dysplasia?[littlepeopleuk.org] What characterizes Kniest dysplasia from other type II Osteochondrodysplasia is the level of severity and the dumb-bell shape of shortened long tubular bones.[en.wikipedia.org] There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery.[jmg.bmj.com]

  • Parastremmatic Dwarfism

    Digital x-ray of the spine, pelvis, chest and knees together with magnetic resonance imaging of the entire spinal column were done.[omicsonline.org] However, involvement of the long tubular bones and round bones, as well as pelvic and scapular involvement, delineates a previously unreported bone dysplasia.[rrnursingschool.biz] Physical exaniination at 13 years (Fig. 1) showed severe, disproportionate shortness of stature caused by rhizomesomelic shortness with a semiflexed posture (clinical and[vdocuments.mx]

  • Chondrodysplasia Punctata

    Postnatal X-rays and examination showed ichthyosis (8/9) and epiphyseal stippling (9/9), with frequent asymmetric short and bowed long bones.[ncbi.nlm.nih.gov] Radiographs demonstrate thin flattened vertebrae, short ribs, small sacrosciatic notch, extremely short long tubular bones, and markedly short and curved femora (telephone[emedicine.medscape.com] Rhizomelic Chondrodysplasia Punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities[dnatesting.uchicago.edu]

  • Rhizomelic Chondrodysplasia Punctata

    A definitive diagnosis may be made by x ray of the limbs and spine.[encyclopedia.com] Radiographs demonstrate thin flattened vertebrae, short ribs, small sacrosciatic notch, extremely short long tubular bones, and markedly short and curved femora (telephone[emedicine.medscape.com] Rhizomelic Chondrodysplasia Punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities[dnatesting.uchicago.edu]

  • Spondyloepimetaphyseal Dysplasia - Abnormal Dentition

    Digital x-ray of the spine, pelvis, chest and knees together with magnetic resonance imaging of the entire spinal column were done.[omicsonline.org] Radiographs illustrate marked shortening of tubular bones and expanded metaphyses, with marked rhizomelic shortening of long tubular bones ( Fig. 8-12 ).[radiologykey.com] short stature Pica Disproportionate short-limb short stature Kyphoscoliosis Tibial bowing Micrognathia Rare Symptoms - Less than 30% cases Joint laxity Depressed nasal ridge[mendelian.co]