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26 Possible Causes for Abnormal Spine X-Ray, Kyphoscoliosis, 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] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov] […] humerus and femur are predominantly affected), flared and irregular metaphyses, flattened femoral heads, incomplete formation of the acetabulum, a widened pubic symphysis, kyphoscoliosis[symptoma.com]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    Figure 1 X-rays of some of the cases described.[ojrd.biomedcentral.com] 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] Etiology Kozlowski type of spondylometaphyseal dysplasia results in severe kyphoscoliosis and is caused by mutations in the TRPV4 gene (locus 12q24.1).[orpha.net]

  • Osteogenesis Imperfecta

    […] 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] The aim of this study was to describe a novel genetic abnormality in a case of OI type XI with mild joint contractures, kyphoscoliosis, muscular atrophy, progressively deforming[ncbi.nlm.nih.gov]

  • 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] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co] Kniest syndrome (autosomal dominant; kyphoscoliosis, shortened tubular bones). Metatrophic dysplasia (severe kyphoscoliosis, narrow chest, metaphyseal flaring).[fetalultrasound.com]

  • 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] 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] Disease definition A very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.[orpha.net]

  • 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] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co] He had severe kyphoscoliosis. Slit-lamp examination was normal.[ncbi.nlm.nih.gov]

  • Kniest Dysplasia

    After birth by: Observation of common physical characteristics X-rays What are common characteristics of Kniest Dysplasia?[littlepeopleuk.org] There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery.[jmg.bmj.com] Musculoskeletal Problems Short limbs Shortened body trunk Flattened bones in the spine kyphoscoliosis Scoliosis (Lateral curvature of the spine) Early development of arthritis[en.wikipedia.org]

  • 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] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[orpha.net] Related symptoms: Intellectual disability Short stature Scoliosis Delayed skeletal maturation Kyphoscoliosis SOURCES: ORPHANET More info about DYSSPONDYLOENCHONDROMATOSIS[mendelian.co]

  • Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

    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] The clinical features include near to normal length at birth, short stature with final height of 110-130 cm, shortening of the upper segment due to severe progressive kyphoscoliosis[ncbi.nlm.nih.gov]

  • 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] In addition, the older sister had strike precocious calcification of costal cartilage while her sister and brother had severe kyphoscoliosis.[ncbi.nlm.nih.gov]

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