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16 Possible Causes for Abnormal Spine X-Ray, Hyperextensible Joints, 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] Shortened Limbs Short stubby fingers Waddling walk Joint pain (with age) Large range of joint movement (hyperextensibility) in hands, knees and ankles Limited range of motion[littlepeopleuk.org] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov]

  • Osteogenesis Imperfecta

    […] bone disease by taking X-rays.[healthline.com] Connective tissue abnormalities leading to joint hyperextensibility may result in dislocation of joints and the head of the radius.[doi.org] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    Figure 1 X-rays of some of the cases described.[ojrd.biomedcentral.com] […] fingers * Severe kyphosis * Mild scoliosis * Pigeon chested * Enlarged joints * Mildly retarded psychomotor development * Speech impairment * Flattened vertebrae * Abnormal[checkorphan.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]

  • Growth Failure

    Lateral skull : midface hypoplasia, frontal prominence Spine : abnormally narrow interpedicular distance spinal canal stenosis ; scoliosis Extremities: bones are short and[amboss.com] Secondary criteria include: Widow's peak hair pattern, ptosis, downward slanting palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism[cjhr.org] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net]

  • Platyspondyly

    […] 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] joints, varicosities, and multiple skeletal abnormalities.[findzebra.com] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co]

  • Skeletal Dysplasia

    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] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[en.wikipedia.org]

  • Chondrodystrophy

    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] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[en.wikipedia.org]

  • 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] joints, mongoloid facies, mental retardation, CV ( endocardial cushion defect, atrial & ventricular septal defect ) - Trisomy 13 (D) : single midline intracerebral ventricle[scribd.com] 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]

  • 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] […] genu [ je nu ] (pl. ge nua ) ( L. ) genu recurva tum hyperextensibility of the knee joint. genu val gum a childhood deformity, developing gradually, in which the knees rub[medical-dictionary.thefreedictionary.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]

  • Congenital Scoliosis due to Bony Malformation

    Research Highlight:Medicine Previous Index Next December 28, 2012 Short stature and skeletal abnormalities arise from mutations in the PAPSS2 gene Figure 1: X-ray image of[riken.jp] Physical examination was performed showing a head positioned in hyperextension, a mild arched palate, prominent joints, limited elbow movements, hyperextensible wrists and[cags.org.ae] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co]

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