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62 Possible Causes for Cervical Cord Compression, Pediatric Disorder, Severely Disproportionate Short Stature

  • Anauxetic Dysplasia

    cord compression ; Cervical subluxation ; Delayed ossification of carpal bones ; Flared metaphysis ; Hypertelorism ; Hypodontia ; Hypoplastic ilia ; Intellectual disability[mousephenotype.org] Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders Pediatric Orthopedic Institute n.a. H. Turner Saint Petersburg Russia 2.[link.springer.com] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov]

  • Pseudoachondroplasia

    Death is usually secondary to respiratory compromise or from cervical cord compression by a very small foramen magnum.[ommbid.mhmedical.com] Disorders of the Pediatric and Adolescent Spine. Spinal Manifestations of Skeletal Dysplasias. Original Text by Clifford R. Wheeless, III, MD.[wheelessonline.com] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov]

  • Diastrophic Dysplasia

    Seven patients with LS were studied of whom four had cervical spine changes with cord compression.[ncbi.nlm.nih.gov] ., BONE DYSPLASIA: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed., Oxford Press, 2002, 200.[mirc.luriechildrens.org] BACKGROUND: Diastrophic dysplasia results in severe disproportionate short stature, generalized joint deformities, and early osteoarthritis.[ncbi.nlm.nih.gov]

  • Osteogenesis Imperfecta

    View Article PubMed Google Scholar Pauli RM, Gilbert EF: Upper cervical cord compression as cause of death in osteogenesis imperfecta type II.[bmcpediatr.biomedcentral.com] Neurology and Musculoskeletal disorders and Home care, Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm, Sweden.[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

    […] myelopathy and cord compression.[omicsonline.org] Center for Human Genetics and is Director of the Rare Brain Disorders Program (Clinic and Laboratory).[books.google.com] 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]

  • Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

    Death is usually secondary to respiratory compromise or from cervical cord compression by a very small foramen magnum.[ommbid.mhmedical.com] […] you need to effectively diagnose and treat pediatric musculoskeletal disorders.[books.google.com] We report a 14-yr-old Korean male who presented with a disproportionately short stature and a short trunk.[ncbi.nlm.nih.gov]

  • Congenital Hemihypertrophy

    cord compression Coarse hair Leiomyosarcoma Ophthalmoplegia Difficulty walking Slow progression Pes cavus Dysphagia Ptosis Embryonal neoplasm Spontaneous abortion Hepatoblastoma[mendelian.co] Bilateral adrenal pheochromocytomas have also been described in patients with Beckwith–Wiedemann syndrome (BWS), a pediatric overgrowth disorder, usually presenting with hemihypertrophy[edmcasereports.com] Dermatology; a textbook of skin disorders of childhood and adolescence.[olox.pro]

  • Schwartz-Lelek Syndrome

    Neurological symptoms result from compression of the medulla and cervical spinal cord.[rrnursingschool.biz] Craniotubular bone disorders. Pediatric Radiology , Vol. 24, Issue. 6, p. 392.[cambridge.org] […] coxa vara and disproportionate short stature, abnormal epiphyses and vertebra plana Femoral head ossification not until 5 years Vertebrae are flattened throughout and pear[flinders.edu.au]

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    At 4 years, respiratory insufficiency and quadriplegia spontaneously occurred, which was attributed to cervical cord compression.[jmg.bmj.com] Completely updated, the new edition of this easy-to-reference text examines the physiological, biochemical, and genetic aspects of pediatric endocrine disorders.[books.google.es] 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]

  • Mucopolysaccharidosis 6

    Cervical cord compression due to bony abnormality, atlanto-axial instability, and thickening of the dura can lead to extremity pain, loss of motor function and sensation in[emedicine.medscape.com] Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr. 2004; 144(5): 3-14. 4.[revistamedicina.net] Short stature is described as disproportionate because the trunk may be shorter than the legs. In severe cases, final height may be less than 4 feet (120 centimeters).[rarediseases.org]

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