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11 Possible Causes for Abnormal Spine X-Ray, Short Stature, Variable Malocclusions

  • Osteogenesis Imperfecta

    Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias. Qual Life Res 2017;26:1337-48. 17.[doi.org] 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]

  • Osteogenesis Imperfecta Type 15

    OI15 is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclerae.[malacards.org] 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]

  • Pyknodysostosis

    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] 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]

  • Schmid Metaphyseal Chondrodysplasia

    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] […] 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]

  • Osteogenesis Imperfecta Type 3

    Clinical examinations revealed low bone density, short stature, severe vertebral compression fractures, and multiple long bone fractures in the affected members.[ncbi.nlm.nih.gov] 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]

  • Osteogenesis Imperfecta Type 2

    There is no previous family history of short stature, blue sclerae, poor dentition, osseous fragility, easy bruising, hearing loss, or joint laxity.[jmg.bmj.com] 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]

  • Osteogenesis Imperfecta Type 5

    OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis[orpha.net] 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]

  • Amelogenesis imperfecta Type 2A3

    Verloes A, Jamblin P, Koulischer L, Bourguignon JP: A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly. Clin Genet 49:2–5 (1996).[karger.com] dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Taurodontism Trichodysplasia with amelogenesis imperfecta syndrome Verloes Bourguignon[icdlist.com] stature, 601216 Amelogenesis Imperfecta syndromic AI with brachyolmia Tags Green List (high evidence) MMP20 2 reviews 1 green BIALLELIC, autosomal or pseudoautosomal Sources[panelapp.genomicsengland.co.uk]

  • Serpentine Fibula - Polycystic Kidneys Syndrome

    In 1988, Exner [1988: Eur J Pediatr 147:544-546] coined the term "serpentine fibula-polycystic kidney syndrome" (SFPKS) when he reported on a girl with short stature, unusual[ncbi.nlm.nih.gov] .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]

  • Osteogenesis Imperfecta Typ 4

    OI15 is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclerae.[malacards.org] 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]

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