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6,283 Possible Causes for All Reported Mutations Have Occurred De Novo, Pediatric Disorder, Short Humerus

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  • Cerebro-Costo-Mandibular Syndrome

    A new familial developmental disorder. Arch Dis Chil 45: 421 Google Scholar 4.[link.springer.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] TIS is a disorder where severe problems in how the chest, spine, and ribs are formed prevent normal breathing and lung development.[rarediseases.org]

  • Osteogenesis Imperfecta

    Short stature. Short humerus (arm bone) and short femur (upper leg bone) Coxa vera is common (the acutely angled femur head affects the hip socket).[web.archive.org] Neurology and Musculoskeletal disorders and Home care, Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm, Sweden.[ncbi.nlm.nih.gov] humerus (arm bone) and short femur (upper leg bone) coxa vara (a deformed hip joint in which the neck of the femur is bent downward) is common; the acutely angled femur head[web.archive.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Rhabdomyosarcoma

    Anterior view nuclear bone scan of pelvis reveals abnormal avidity in lumbar spine ( short arrows ), both sacroiliac joints ( curved arrows ), left ilium and ischium, and[ajronline.org] Dana-Farber/Boston Children's Children with rhabdomyosarcoma are treated through the Bone and Soft Tissue Tumor Program at Dana-Farber/Boston Children's Cancer and Blood Disorders[dana-farber.org] Author information 1 Division of Pediatric Hematology-Oncology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee. 2 Division of Pediatric[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo
  • Osteosarcoma

    Location Metaphysis of long bones (distal femur, proximal tibia, proximal humerus); less commonly in flat bones, facial, pelvic, scapula, spine, short bones.[medical-dictionary.thefreedictionary.com] Our specialists — including pediatric oncologists, surgical oncologists and radiation oncologists — offer a level of expertise in bone cancers rarely seen at other pediatric[dana-farber.org] ; sites of peak mitotic activity for bone cells); occasionally diaphysis, rarely epiphysis; less common in flat bones or short bones; usually arises within medullary cavity[pathologyoutlines.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Down Syndrome

    (95% CI, 0.06-0.29) when short humerus but not short femur was included.[ncbi.nlm.nih.gov] Author information 1 Specialized Medical Center, Department of Pediatric Respiratory Medicine, Sleep Disorders Center, Box 84350, Riyadh 11671, Saudi Arabia.[ncbi.nlm.nih.gov] Christensen, An Instructive Case of Transient Myeloproliferative Disorder, Clinical Pediatrics, 10.1177/0009922816662460, 56, 3, (288-289), (2016).[doi.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Pseudohypoparathyroidism

    humerus and curved radius 258, as well as other craniofacial peculiarities (typical pear-shaped nose, long and flat philtrum, thin upper lip and receding chin) and phalangeal[doi.org] Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. 4th ed.[pedsinreview.aappublications.org] Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders. J Pediatr. 2013;163(4):1202–7. doi: 10.1016/j.jpeds.2013.05.017.[clinicalepigeneticsjournal.biomedcentral.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Langerhans-Cell Histiocytosis

    Orthopedic problems from lesions of the spine, femur, tibia, or humerus may be seen in 20% of patients.[cancer.gov] Ting-Wen An Lee, Radhika Muzumdar and Paul Saenger, Growth Disorders, Textbook of Clinical Pediatrics, 10.1007/978-3-642-02202-9_386, (3739-3757), (2012).[oadoi.org] […] long-term survivors with CNS-risk skull lesions.[ 9 ] Some patients have markedly abnormal cerebellar function and behavior abnormalities, while others have subtle deficits in short-term[cancer.gov]

    Missing: All Reported Mutations Have Occurred De Novo
  • Familial Short Stature

    Short-trunk short stature in which there is trunk shortening as spondyloepiphyseal dysplasia and mucopolysaccharidosis Short-limb short stature can be further subcategorised[en.wikipedia.org] Explore the impact of today’s advances and challenges, including explosive growth in molecular biology, sophisticated imaging techniques, and an increase in both pediatric[books.google.com] Lifshitz F, Zandsberg S (1985) Disorders of growth. In: Lifshitz F (ed) Pediatric endocrinology. Marcel Dekker, New York p 14 Google Scholar 14.[link.springer.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Acute Gastroenteritis

    Seventy children with acute gastroenteritis and their parents completed the Rome III Diagnostic Questionnaire for Pediatric Functional GI Disorders and the Children's Somatization[ncbi.nlm.nih.gov] Rotavirus gastroenteritis: precursor of functional gastrointestinal disorders?. J Pediatr Gastroenterol Nutr. 2009 Nov. 49(5):580-3. [Medline].[emedicine.medscape.com]

    Missing: All Reported Mutations Have Occurred De Novo Short Humerus
  • Rhizomelic Chondrodysplasia Punctata Type 2

    The baby had short humerus bones with stippled epiphyses, consistent with the disease.[file.scirp.org] CrossRef PubMed Google Scholar [7] Moser H.W. : Peroxisomal disorders. J. Pediatr. 108:89–91, 1986.[link.springer.com] humerus ; Stippled calcification proximal humeral epiphyses ; Wide nasal bridge Associated Genes GNPAT (Withdrawn symbols: DAP-AT, DAPAT, DHAPAT ) Mouse Orthologs Gnpat ([mousephenotype.org]

    Missing: All Reported Mutations Have Occurred De Novo

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