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14 Possible Causes for Abnormal Spine X-Ray, Severely Disproportionate Short Stature, Stillbirth

  • Osteogenesis Imperfecta

    […] bone disease by taking X-rays.[healthline.com] A case of a stillbirth with lethal type II osteogenesis imperfecta (OI) was reported. The fetus had skull fractures and craniocerebral injuries during pregnancy.[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]

  • Growth Failure

    Lateral skull : midface hypoplasia, frontal prominence Spine : abnormally narrow interpedicular distance spinal canal stenosis ; scoliosis Extremities: bones are short and[amboss.com] […] in higher-paying skilled labor and white-collar jobs, are less likely to live in poor households, and, for women, fewer pregnancies and smaller risk of miscarriages and stillbirths[ideas.repec.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]

  • Skeletal Dysplasia

    Many different skeletal dysplasias have abnormalities of the spine, metaphyses, and epiphyses apparent on x-ray.[ncbi.nlm.nih.gov] All five patients were stillbirths.[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]

  • 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] Trauma during delivery may lead to intracranial hemorrhage and stillbirth. Neonates may die suddenly during the first few days or weeks of life.[learningradiology.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] Shoulder flexion contracture ; Single transverse palmar crease ; Sloping forehead ; Small anterior fontanelle ; Sparse and thin eyebrow ; Sparse eyelashes ; Sparse scalp hair ; Stillbirth[mousephenotype.org] […] intrauterine and postnatal growth failure, microcephaly, and disproportionate short stature due to short limbs.[genome.jp]

  • Chondrodystrophy

    Many different skeletal dysplasias have abnormalities of the spine, metaphyses, and epiphyses apparent on x-ray.[ncbi.nlm.nih.gov] Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end.[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]

  • 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] No spon- taneous abortions, stillbirths, or perinatal deaths were reported among patients.[dev.docslide.net] 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-Linked Spondyloepiphyseal Dysplasia Tarda

    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] Review of type II achondrogenesis documented distinctive clinical and anthropometric manifestations (fewer stillbirths, longer survival time and gestational period, larger[scinapse.io] Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong[monarchinitiative.org]

  • Rhizomelic Chondrodysplasia Punctata Type 1

    A definitive diagnosis may be made by x ray of the limbs and spine.[encyclopedia.com] High rate of stillbirth or mortality during the first year oflife is reported, as a result of associated anomalies orintercurrent diseases 3.[webdesignpro09.info] Rhizomelic chondrodysplasia punctata type 1 ( RCDP1 ; MIM 215100) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic[ctgt.net]

  • 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] High rate of stillbirth or mortality during the first year oflife is reported, as a result of associated anomalies orintercurrent diseases 3.[lcso.cc] Rhizomelic Chondrodysplasia Punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities[dnatesting.uchicago.edu]

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