Create issue ticket

26 Possible Causes for Abnormal Spine X-Ray, Severely Disproportionate Short Stature, Skeletal Dysplasia

  • 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] Definition A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower[uniprot.org]

  • Osteogenesis Imperfecta

    […] bone disease by taking X-rays.[healthline.com] When a skeletal dysplasia is detected during the antenatal period, especially early in the pregnancy, it can be associated with a poor prognosis.[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]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    Figure 1 X-rays of some of the cases described.[ojrd.biomedcentral.com] Delineation of Skeletal Dysplasias The discovery of new skeletal dysplasias has been an ongoing process since the 1940s.[musculoskeletalkey.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]

  • 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] Stemming from research being performed at Baylor and its genetics department as part of a systematic search for genetic causes of skeletal dysplasias, the project set out[euvolution.com] 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]

  • Growth Failure

    Lateral skull : midface hypoplasia, frontal prominence Spine : abnormally narrow interpedicular distance spinal canal stenosis ; scoliosis Extremities: bones are short and[amboss.com] Any evidence of disproportionate short stature raises the question of an inborn skeletal dysplasia.[oncohemakey.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

    Many different skeletal dysplasias have abnormalities of the spine, metaphyses, and epiphyses apparent on x-ray.[ncbi.nlm.nih.gov] DEVELOPMENT AND ENDOCHONDRAL OSSIFICATION CELLULAR PROCESSES THAT CONTRIBUTE TO NORMAL SKELETAL GROWTH AND SKELETAL DYSPLASIA THE SKELETAL DYSPLASIAS THE GENETICS OF SKELETAL[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]

  • 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] The advances referred to in this chapter, particularly molecular genetics and database access, have transformed the diagnosis of skeletal dysplasias.[books.google.com] 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]

  • Chondrodystrophy

    Many different skeletal dysplasias have abnormalities of the spine, metaphyses, and epiphyses apparent on x-ray.[ncbi.nlm.nih.gov] DEVELOPMENT AND ENDOCHONDRAL OSSIFICATION CELLULAR PROCESSES THAT CONTRIBUTE TO NORMAL SKELETAL GROWTH AND SKELETAL DYSPLASIA THE SKELETAL DYSPLASIAS THE GENETICS OF SKELETAL[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]

  • 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] TY - JOUR T1 - A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.[unboundmedicine.com] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co]

  • Kniest Dysplasia

    After birth by: Observation of common physical characteristics X-rays What are common characteristics of Kniest Dysplasia?[littlepeopleuk.org] The advances referred to in this chapter, particularly molecular genetics and database access, have transformed the diagnosis of skeletal dysplasias.[books.google.com] There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery.[jmg.bmj.com]

Similar symptoms