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10 Possible Causes for Abnormal Spine X-Ray, Skeletal Dysplasia, Variable Malocclusions

  • Osteogenesis Imperfecta

    The sclera have variable hues. In utero fractures are common. Limb shortening and progressive deformities can occur.[web.archive.org] […] bone disease by taking X-rays.[healthline.com] When a skeletal dysplasia is detected during the antenatal period, especially early in the pregnancy, it can be associated with a poor prognosis.[ncbi.nlm.nih.gov]

  • Schmid Metaphyseal Chondrodysplasia

    […] weakness; - scoliosis, genu valgum deformity, dental / malocclusion and bone fragility; - marked expansion of the metaphyseal segments of tubular leads to an "Erlenmeyer[wheelessonline.com] X-ray demonstrates metaphyseal widening, coxa vara, without associated cervical spine abnormalities or extra-skeletal manifestations.[endocrine-abstracts.org] We reviewed the radiographs of Schmid MCD patients at the International Skeletal Dysplasia Registry in Los Angeles for evidence of hand involvement.[ncbi.nlm.nih.gov]

  • Osteogenesis Imperfecta Type 2

    The affected persons’ posture, weight and size of the head are often abnormal and these variables may contribute to the development of the Skeletal Class III malocclusion.[nature.com] […] bone disease by taking X-rays.[healthline.com] Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia. Clin Genet 2000 ; 58 : 390 –5.[jmg.bmj.com]

  • Pyknodysostosis

    The patient presented the mouth deformity described by most of the reports, however, as the three cases reported by Hunt et al, presented different types of malocclusion ([jisppd.com] Lumbar spine X-rays showed reduced inter-vertebral spaces. Figure 1 Figure 1: Pigmy like faces, beaked nose, receding jaw and obtuse mandibular angle Figure 2 Figure 2.[ispub.com] Abstract: Patients with pycnodysostosis, a rare skeletal dysplasia, present with bone abnormalities such as short stature, acroosteolysis of distal phalanges, and skull deformities[doi.org]

  • Osteogenesis Imperfecta Type 5

    The affected persons’ posture, weight and size of the head are often abnormal and these variables may contribute to the development of the Skeletal Class III malocclusion.[nature.com] […] bone disease by taking X-rays.[healthline.com] New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrent fractures are included.[books.google.com]

  • Osteogenesis Imperfecta Type 15

    The affected persons’ posture, weight and size of the head are often abnormal and these variables may contribute to the development of the Skeletal Class III malocclusion.[nature.com] […] bone disease by taking X-rays.[healthline.com] There are diagnosis difficulties between OI and other skeletal dysplasia.[panafrican-med-journal.com]

  • Osteogenesis Imperfecta Type 3

    The affected persons’ posture, weight and size of the head are often abnormal and these variables may contribute to the development of the Skeletal Class III malocclusion.[nature.com] […] bone disease by taking X-rays.[healthline.com] OI is one of the most common skeletal dysplasias.[emedicine.medscape.com]

  • Amelogenesis imperfecta Type 2A3

    Since the spine X-ray in the girl showed no abnormalities (fig. 3 a, b), this differential diagnosis is no longer relevant.[karger.com] dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Taurodontism Trichodysplasia with amelogenesis imperfecta syndrome Verloes Bourguignon[icdlist.com] dysplasia and amelogenesis imperfecta Tags Red List (low evidence) SMARCD2 1 review BIALLELIC, autosomal or pseudoautosomal Sources Other Phenotypes Specific granule deficiency[panelapp.genomicsengland.co.uk]

  • Serpentine Fibula - Polycystic Kidneys Syndrome

    .2 Variable deformities of the arms, legs,fingers and toes are usually present along withcharacteristic radiological changes (especially corticalirregularities and narrowing[japi.org] X-rays of the spine can show fractures and bone loss.[rarediseases.org] Abstract Serpentine fibula polycystic kidney syndrome (SFPKS; OMIM600330) is a rare skeletal dysplasia with a characteristic phenotype that includes polycystic kidneys, S-shaped[ncbi.nlm.nih.gov]

  • Osteogenesis Imperfecta Typ 4

    The affected persons’ posture, weight and size of the head are often abnormal and these variables may contribute to the development of the Skeletal Class III malocclusion.[nature.com] […] bone disease by taking X-rays.[healthline.com] Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia. Clin Genet 2000 ; 58 : 390 –5.[jmg.bmj.com]

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