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537 Possible Causes for Abnormal Spine X-Ray, Narrow Greater Sacrosciatic Notch, Severely Disproportionate Short Stature

  • 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] greater sacrosciatic notches 0003375 Narrow vertebral interpedicular distance 0008450 Short femoral neck Short neck of thighbone 0100864 Short ribs 0000773 Vertebral hypoplasia[rarediseases.info.nih.gov] 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]

  • 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] greater sacrosciatic notches 0003375 Prominent sternum 0000884 Severe global developmental delay 0011344 Short femoral neck Short neck of thighbone 0100864 Short metacarpal[rarediseases.info.nih.gov] 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]

  • 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: Narrow Greater Sacrosciatic Notch
  • Spondylometaphyseal Dysplasia Type Kozlowski 

    Figure 1 X-rays of some of the cases described.[ojrd.biomedcentral.com] greater sacrosciatic notches 0003375 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Recurrent pneumonia 0006532 Retinal degeneration Retina degeneration 0000546[rarediseases.info.nih.gov] 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]

  • Osteogenesis Imperfecta

    […] bone disease by taking X-rays.[healthline.com] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] […] outward curve of the upper spine scoliosis, or an abnormal lateral curve of the spine early hearing loss respiratory problems heart defects Your doctor can diagnose brittle[healthline.com]

    Missing: Narrow Greater Sacrosciatic Notch
  • Platyspondyly

    greater sacrosciatic notches Corneal opacity Thoracolumbar kyphosis Postnatal growth retardation Respiratory tract infection Kyphoscoliosis Severe short stature Arrhythmia[mendelian.co] […] 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] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co]

  • Mucopolysaccharidosis 7

    […] assessed by dual-energy X-ray absorptiometry (DXA), and d) radiographs of the skeletal system.[termedia.pl] 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] Results: All patients were normocalcemic, but the majority of them had abnormal serum levels of other parameters of calcium-phosphate metabolism such as: hypophosphatemia[termedia.pl]

    Missing: Severely Disproportionate Short Stature
  • Lumbar Disk Herniation

    Percutaneous diskectomy is a new method for reducing lumbar disk herniation. This procedure is simple, safe, and only semiinvasive since it causes no direct damage to the dura or nerve roots. This technique employs a nucleotome (blunt-tipped, suction-cutting probe) with a rotating electric shaver (3 mm in diameter)[…][ncbi.nlm.nih.gov]

    Missing: Narrow Greater Sacrosciatic Notch Severely Disproportionate Short Stature
  • Osteoarthritis

    Osteoarthritis is a degenerative joint disease that affects mostly the weight-bearing joints in the knees and hips. As the affected joint degenerates pain and restriction of movement often occur. Inflammation can also occur sometimes resulting in edema of the joint with OA. Treatment focuses on decreasing pain[…][ncbi.nlm.nih.gov]

    Missing: Narrow Greater Sacrosciatic Notch Severely Disproportionate Short Stature
  • Osteoporosis

    From Wikidata Jump to navigation Jump to search bone resorption disease characterized by decreased density of normally mineralized bone which results in the thinning of bone tissue and decreased mechanical strength Osteoporosis, Involutional Fracture, Hip, Susceptibility to edit English osteoporosis bone resorption[…][wikidata.org]

    Missing: Narrow Greater Sacrosciatic Notch Severely Disproportionate Short Stature