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12 Possible Causes for Abnormal Spine X-Ray, Onset by Age 2 Years, Severely Disproportionate Short Stature

  • Pseudoachondroplasia

    Case 1 corresponds to a boy aged 2 years referred to the outpatient paediatrics clinic for assessment of a limp present from onset of walking.[analesdepediatria.org] 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]

  • Osteogenesis Imperfecta

    Onset is in infancy; it typically resolves itself by the age of 2 years.[invitae.com] […] 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]

  • Growth Failure

    METHODS: Adolescents (n 182) aged 10.0-18.0 years underwent a standardized diagnostic protocol.[ncbi.nlm.nih.gov] Lateral skull : midface hypoplasia, frontal prominence Spine : abnormally narrow interpedicular distance spinal canal stenosis ; scoliosis Extremities: bones are short and[amboss.com] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net]

  • Skeletal Dysplasia

    It is also important to obtain an accurate history as to the time of onset of short stature and whether it was present prenatally or not noticed until age 2 or 3 years.[nature.com] 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]

  • Platyspondyly

    Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically[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]

  • Familial Short Stature

    years of age Height more than 3 standard deviations below the mean for age Growth velocity 5 cm (2 in) per year No onset of puberty by 14 years of age for boys or 13 years[aafp.org] Lateral skull : midface hypoplasia, frontal prominence Spine : abnormally narrow interpedicular distance spinal canal stenosis ; scoliosis Extremities: bones are short and[amboss.com] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com]

  • X-Linked Spondyloepiphyseal Dysplasia Tarda

    Clinical and morphometric findings in a family with spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis* Age at Arm Family Age onset Height span[islidedocs.net] X-rays of the spine and pelvis of her 8-year-old son revealed characteristic changes of SEDT, but her younger sons (aged 6 years and 3 years) showed no abnormalities.[ncbi.nlm.nih.gov] Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong[monarchinitiative.org]

  • Tibia Varum

    Genu valgum Physiologic genu valgum is normal in a child between 2 and 8 years of age, generally reaching maximum deformity between the ages of 2 and 4.[posna.org] Too much abnormal motion in the cervical spine can cause pressure on the spinal cord. Treatment for this disorder requires regular clinical exams and X-rays.[shrinershospitalsforchildren.org] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com]

  • Parastremmatic Dwarfism

    Clinical and Anthropometric Data Paiierir 1 Parien t 2 Patient 3 Onset age (years) 5 5 5 Age at examinat on (years) 13 1 2 11 Arthrdlglas Weakness Waddllng gait Semi tlexed[vdocuments.mx] Digital x-ray of the spine, pelvis, chest and knees together with magnetic resonance imaging of the entire spinal column were done.[omicsonline.org] Figure 1 X-rays of some of the cases described .[ojrd.biomedcentral.com]

  • Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

    Case 1 corresponds to a boy aged 2 years referred to the outpatient paediatrics clinic for assessment of a limp present from onset of walking.[analesdepediatria.org] X-rays of the spine and pelvis of her 8-year-old son revealed characteristic changes of SEDT, but her younger sons (aged 6 years and 3 years) showed no abnormalities.[ncbi.nlm.nih.gov] We report a 14-yr-old Korean male who presented with a disproportionately short stature and a short trunk.[ncbi.nlm.nih.gov]

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