Create issue ticket

26 Possible Causes for Abnormal Spine X-Ray, 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] 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] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[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]

  • Spondylometaphyseal Dysplasia

    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] AD brachyolmia was considered, based on the literature [ 8 ], as a condition affecting only the spine, with platyspondyly and vertebral abnormalities, but no metaphyseal changes[ojrd.biomedcentral.com]

  • 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] 124 cm ) in females Average-sized torso ; short, plump extremities Macrocephaly, prominent brow, midface retrusion, flattening of the nose Normal intelligence Diagnostics X-ray[amboss.com]

  • 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] […] portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely[malacards.org]

  • 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]

  • 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] Pseudoachondroplasia (OMIM 177170) is an autosomal dominant skeletal dysplasia that results in disproportionately (micromelic) short stature, severe brachydactyly with strikingly[sajr.org.za]

  • Familial Short Stature

    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] 124 cm ) in females Average-sized torso ; short, plump extremities Macrocephaly, prominent brow, midface retrusion, flattening of the nose Normal intelligence Diagnostics X-ray[amboss.com]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    […] considered very rare Occurs as a result of mutation in the PCNT gene Adult height ranges from 20 inches to 40 inches Diagnosis of MOPDII After birth by: Historical records X-rays[littlepeopleuk.org] […] intrauterine and postnatal growth failure, microcephaly, and disproportionate short stature due to short limbs.[genome.jp] Short stature Small head size Abnormal hip development (hip dysplasia) Spine curvature (scoliosis) Thinning of arm and leg bones high pitched voice Indentifiable facial features[littlepeopleuk.org]

Further symptoms