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21 Possible Causes for Abnormal Spine X-Ray, Failure to Thrive, 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] A 5-year-old boy was admitted to the hospital with failure to thrive since he was 2 years old, with weakness in his legs and a waddling gait.[ncbi.nlm.nih.gov] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[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] Presentation on theme: "Faltering growth(failure to thrive)"— Presentation transcript: 1 Faltering growth(failure to thrive) refers to not only failure of growth(suboptimal[slideplayer.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]

  • Osteogenesis Imperfecta

    […] bone disease by taking X-rays.[healthline.com] The clinical phenotypes of this OI included recurrent fractures, low bone mass, macrocephaly, blue sclera and failure to thrive.[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]

  • Skeletal Dysplasia

    Many different skeletal dysplasias have abnormalities of the spine, metaphyses, and epiphyses apparent on x-ray.[ncbi.nlm.nih.gov] In addition, he presented with very severe prenatal growth failure, respiratory distress as a neonate, subsequent failure to thrive and susceptibility to airway infection,[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]

  • 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] […] to thrive (child) R62.52 Short stature (child) R62.59 Other lack of expected normal physiological development in childhood R62.7 Adult failure to thrive R63 Symptoms and[icd10data.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]

  • 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] 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] X-rays features include wide flaring of the ilium, shallow acetabula, flattening of femoral heads, coxa and genu valga, and dysostosis multiplex, while skeletal abnormalities[omicsonline.org]

  • Chondrodysplasia Punctata

    Postnatal X-rays and examination showed ichthyosis (8/9) and epiphyseal stippling (9/9), with frequent asymmetric short and bowed long bones.[ncbi.nlm.nih.gov] […] to thrive, and psychomotor retardation.[ncbi.nlm.nih.gov] Rhizomelic Chondrodysplasia Punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities[dnatesting.uchicago.edu]

  • Rhizomelic Chondrodysplasia Punctata Type 1

    A definitive diagnosis may be made by x ray of the limbs and spine.[encyclopedia.com] She had rhizomelic chondrodysplasia punctata, microcephaly, failure to thrive, delayed motor and mental development, and spastic quadriplegia.[cambridge.org] Rhizomelic chondrodysplasia punctata type 1 ( RCDP1 ; MIM 215100) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic[ctgt.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] Case Report A five and half year old boy presented with failure to thrive and multiple deformities of his limbs.[ispub.com] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co]

  • 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] […] to thrive ; Femoral bowing ; Heterotopia ; Hip contracture ; Hip dislocation ; Hyperkeratosis ; Hypoplasia of the frontal lobes ; Hypoplastic ilia ; Intellectual disability[mousephenotype.org] […] intrauterine and postnatal growth failure, microcephaly, and disproportionate short stature due to short limbs.[genome.jp]

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