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17 Possible Causes for Abnormal Spine X-Ray, Cervical Cord Compression, 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] Death is usually secondary to respiratory compromise or from cervical cord compression by a very small foramen magnum.[ommbid.mhmedical.com] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov]

  • Osteogenesis Imperfecta

    […] bone disease by taking X-rays.[healthline.com] View Article PubMed Google Scholar Pauli RM, Gilbert EF: Upper cervical cord compression as cause of death in osteogenesis imperfecta type II.[bmcpediatr.biomedcentral.com] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org]

  • 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] At 4 years, respiratory insufficiency and quadriplegia spontaneously occurred, which was attributed to cervical cord compression.[jmg.bmj.com] 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] cord compression Ulnar deviation of the wrist Cervical myelopathy Premature osteoarthritis Atlantoaxial dislocation Hamartomatous polyposis Dry skin Polyneuropathy Coronal[mendelian.co] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co]

  • 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] Severe cervical spine stenosis with cord compression has not been well documented in brachytelephalangic chondrodysplasia punctata.[ncbi.nlm.nih.gov] Rhizomelic Chondrodysplasia Punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities[dnatesting.uchicago.edu]

  • Chondrodystrophy

    Many different skeletal dysplasias have abnormalities of the spine, metaphyses, and epiphyses apparent on x-ray.[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] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[en.wikipedia.org]

  • Skeletal Dysplasia

    Many different skeletal dysplasias have abnormalities of the spine, metaphyses, and epiphyses apparent on x-ray.[ncbi.nlm.nih.gov] MRI was evaluated for odontoid hypoplasia, os odontoideum, cerebrospinal fluid effacement, cord compression, spinal cord changes, cervical canal narrowing in the neutral,[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]

  • Congenital Scoliosis due to Bony Malformation

    Research Highlight:Medicine Previous Index Next December 28, 2012 Short stature and skeletal abnormalities arise from mutations in the PAPSS2 gene Figure 1: X-ray image of[riken.jp] Cervical cord compression and hydrocephalus may develop owing to tightness of the foramen magnum (Rimoin 1995).[rrnursingschool.biz] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co]

  • 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] 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] Figure 1 X-rays of some of the cases described.[ojrd.biomedcentral.com]

  • 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] […] myelopathy and cord compression.[omicsonline.org]

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