Create issue ticket

778 Possible Causes for Abnormal Spine X-Ray, Congenital Pectus Carinatum, Severely Disproportionate Short Stature

  • Osteogenesis Imperfecta

    […] bone disease by taking X-rays.[healthline.com] […] compression fractures codfish vertebrae platyspondyly chest pectus excavatum or carinatum pelvis acetabular protrusio coxa vara general severe osteoporosis deformed, gracile[radiopaedia.org] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org]

  • 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]

  • 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]

    Missing: Congenital Pectus Carinatum
  • Marfan Syndrome

    Diagnosis Clinical criteria Genetic testing Echocardiography/MRI (measurement of the aortic root, detection of valve prolapse) Slit-lamp examination (lens abnormalities) X-rays[merckmanuals.com] […] of skeletal system (hand, spine, pelvis, chest, foot, and skull for characteristic abnormalities) MRI of the lumbosacral spine (dural ectasia) Diagnosis of Marfan syndrome[merckmanuals.com]

    Missing: Severely Disproportionate Short Stature
  • Mucopolysaccharidosis 4A

    Difficult airway should always be anticipated, and a thorough exam of the upper-airway is mandatory, careful observation of chest X-ray, baseline brain and spine MRI, and[omicsonline.org] These included short stature, mental retardation, pectus carinatum, shortened fourth metacarpal, congenital dislocation of the hip, and unusual configuration of the lumbar[annals.org] Lateral cervical spine x-ray of a female age six years with MPS IVA.[genereviews.nrdrs.org.cn]

    Missing: Severely Disproportionate Short Stature
  • Mucopolysaccharidosis 4

    […] assessed by dual-energy X-ray absorptiometry (DXA), and d) radiographs of the skeletal system.[termedia.pl] These included short stature, mental retardation, pectus carinatum, shortened fourth metacarpal, congenital dislocation of the hip, and unusual configuration of the lumbar[annals.org] Digital x-ray of the spine, pelvis, chest and knees together with magnetic resonance imaging of the entire spinal column were done.[omicsonline.org]

    Missing: Severely Disproportionate Short Stature
  • Mucopolysaccharidosis 2

    The signs and symptoms may include abnormal facial features, cloudy corneas, abnormal development of spine, heart valve defects, and short stature in children A healthcare[dovemed.com] […] professional can use various diagnostic tools, such as a physical exam, electrocardiogram, analysis of urine, and X-rays of the affected regions, to help diagnose Mucopolysaccharidosis[dovemed.com]

    Missing: Severely Disproportionate Short Stature
  • Mucopolysaccharidosis 6

    Short stature is described as disproportionate because the trunk may be shorter than the legs. In severe cases, final height may be less than 4 feet (120 centimeters).[rarediseases.org] Affected individuals often exhibit short stature due to growth restrictions.[rarediseases.org]

    Missing: Abnormal Spine X-Ray
  • Homocystinuria

    Screening lateral X-ray views of the lumbar spine will typically show platyspondyly with biconcave vertebrae and clear signs of osteoporosis by the end of the second decade[cancertherapyadvisor.com] In addition, scoliosis and vertebral abnormalities are usually present.[cancertherapyadvisor.com]

    Missing: Severely Disproportionate Short Stature
  • Lumbar Disk Herniation

    Orthopedics. 2018 Jul 1;41(4):e457-e469. doi: 10.3928/01477447-20180621-01. Epub 2018 Jun 26. Abstract Consensus is lacking regarding optimal surgical treatment of recurrent lumbar disk herniation. A systematic search of multiple databases was conducted for studies evaluating outcomes after treatment for recurrent[…][ncbi.nlm.nih.gov]

    Missing: Congenital Pectus Carinatum Severely Disproportionate Short Stature