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21 Possible Causes for Abnormal Spine X-Ray, Genu Varum, Severely Disproportionate Short Stature

  • 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] With age, her rhizomelic dwarfism became increasingly visible, and since completed 15 months of age, when she started to walk, the disease was complicated with genu varum,[ncbi.nlm.nih.gov] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov]

  • 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] varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.[orpha.net] varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe syndrome has been described in three members of a Jewish family of Iraqi origin[malacards.org]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    Figure 1 X-rays of some of the cases described.[ojrd.biomedcentral.com] Fracture Type Synonyms SPONDYLOMETAPHYSEAL DYSPLASIA, SUTCLIFFE TYPE Classification bone, developmental, genetic Phenotypes Autosomal dominant inheritance ; Coxa vara ; Genu[mousephenotype.org] 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]

  • Tibia Varum

    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] […] with genu varum have similar outcomes to those who undergo simple tibia vara correction?[ncbi.nlm.nih.gov] 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]

  • Osteogenesis Imperfecta

    […] bone disease by taking X-rays.[healthline.com] varum, and trident hand.[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]

  • Schmid Metaphyseal Chondrodysplasia

    X-ray demonstrates metaphyseal widening, coxa vara, without associated cervical spine abnormalities or extra-skeletal manifestations.[endocrine-abstracts.org] varum).[checkorphan.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]

  • 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] We describe the orthopaedic management of progressive genu varum in a child who manifested the full phenotypic characterization of Dyggve-Melchior-Clausen syndrome.[ncbi.nlm.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]

  • Growth Failure

    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] The short stature may be either proportionate or disproportionate, severe or mild, and have pre-natal and/or post-natal origin ( 7, 8 ).[frontiersin.org]

  • Skeletal Dysplasia

    Many different skeletal dysplasias have abnormalities of the spine, metaphyses, and epiphyses apparent on x-ray.[ncbi.nlm.nih.gov] She was 2 years and 3 months old with disproportional short stature, short neck, pectus carinatum, genu varum, bilateral pes planus, and obvious waddling gait.[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]

  • Parastremmatic Dwarfism

    Digital x-ray of the spine, pelvis, chest and knees together with magnetic resonance imaging of the entire spinal column were done.[omicsonline.org] varum - High forehead - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Pectus carinatum[csbg.cnb.csic.es] Physical exaniination at 13 years (Fig. 1) showed severe, disproportionate shortness of stature caused by rhizomesomelic shortness with a semiflexed posture (clinical and[vdocuments.mx]

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