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645 Possible Causes for Platyspondyly

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  • Mucopolysaccharidosis 4

    Individuals with SMDK have platyspondyly, overfaced vertebral pedicles, irregular proximal femoral growth plates, and carpal ossification delay [ 21 ].[omicsonline.org] Plain radiograph / CT Axial manifestations platyspondyly hypoplasia of odontoid peg atlantoaxial subluxation os odontoideum anterior central vertebral body beaking round vertebral[radiopaedia.org] There are multiple abnormalities of the spine (platyspondyly, odontoid hypoplasia, cervical subluxation and cervical myelopathy).[medicinenet.com]

  • Mucopolysaccharidosis

    […] skeletal features are distinguished by a disproportional short stature, odontoid hypoplasia, spinal cord compression, tracheal obstruction, pectus carinatum, kyphoscoliosis, platyspondyly[ncbi.nlm.nih.gov] The most common bony changes were hypo/dysplastic odontoid; cervical platyspondyly with anterior inferior beaking; thoracic posterior end plate depressions and lumbar posterior[ncbi.nlm.nih.gov] Beyond the clinical findings described above, imaging often reveals macrocephaly, atlantoaxial dislocation, wedge-shaped vertebral bodies and platyspondyly, spatulate ribs[symptoma.com]

  • Mucopolysaccharidosis 4A

    Short neck, cervical spine instability, and generalized platyspondyly may also be noted.[symptoma.com] Skeletal deformities (platyspondyly, kyphosis, scoliosis, pectus carinatum , genu valgum , long bone deformities) become more pronounced as the child grows.[orpha.net] […] more ] 0000303 Metaphyseal widening Broad wide portion of long bone 0003016 Opacification of the corneal stroma 0007759 Osteoporosis 0000939 Ovoid vertebral bodies 0003300 Platyspondyly[rarediseases.info.nih.gov]

  • Cartilage Hair Hypoplasia

    […] metaphyseal flare and irregularity eleven ribs , moderately short Flared and irregular metaphyses of multiple long bones are also associated with these dysplasias, as well as mild platyspondyly[radiopaedia.org] .  Generalised severe platyspondyly  Increased intervertebral disc height  Open staircase vertebrae  Kyphosis/ scoliosis  Widening sclerosis irregularity of tubular bones[slideshare.net]

  • Smith-McCort Dysplasia

    The radiographic appearance of generalized platyspondyly with double-humped end-plates, and the lace-like appearance of iliac crests are pathognomonic and distinctive of these[ncbi.nlm.nih.gov] The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest.[humpath.com]

  • Faciocardiomusculoskeletal Syndrome Type Uruguay

    DENTAL ANOMALIES AND SHORT STATURE; DASS Is also known as platyspondyly with amelogenesis imperfecta, tooth agenesis, selective, 6, formerly;sthag6, formerly;platyspondyly-amelogenesis[mendelian.co] AND SHORT STATURE; DASS Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly[mendelian.co] Midface retrusion Abnormality of the nail Sacral meningocele Broad nasal tip Amelogenesis imperfecta Arachnodactyly Myopia Delayed skeletal maturation Hernia Osteopenia Platyspondyly[mendelian.co]

  • Spinal Stenosis

    Brachyolmia is a rare short-trunk short stature skeletal dysplasia characterized by generalized platyspondyly without significant epiphyseal or metaphyseal changes in the[ncbi.nlm.nih.gov]

  • Spondyloepimetaphyseal Dysplasia Type PAPSS2

    Radiology Radiographic features include delayed epiphyseal ossification at the hips and knees, platyspondyly with irregular end plates and narrowed joint spaces, diffuse early[ipfs.io] Diagnosis [ edit ] Radiology [ edit ] Radiographic features include delayed epiphyseal ossification at the hips and knees, platyspondyly with irregular end plates and narrowed[en.wikipedia.org] Detailed clinical description The disorders are characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions .[bredagenetics.com]

  • X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

    DENTAL ANOMALIES AND SHORT STATURE; DASS Is also known as platyspondyly with amelogenesis imperfecta, tooth agenesis, selective, 6, formerly;sthag6, formerly;platyspondyly-amelogenesis[mendelian.co] AND SHORT STATURE; DASS Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly[mendelian.co] Midface retrusion Abnormality of the nail Sacral meningocele Broad nasal tip Amelogenesis imperfecta Arachnodactyly Myopia Delayed skeletal maturation Hernia Osteopenia Platyspondyly[mendelian.co]

  • X-Linked Dominant Chondrodysplasia Type Chassaing-Lacombe

    platyspondyly, hydrocephaly, and facial features with microphthalmia.[malacards.org] Radiographs showed severe platyspondyly and various bone abnormalities including a… CONTINUE READING[semanticscholar.org] […] forehead - Hydrocephaly - Low set ears / posteriorly rotated ears - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly[csbg.cnb.csic.es]

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