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102 Possible Causes for Autosomal Dominant, Colonoscopy Abnormal, Pediatric Disorder

  • Familial Adenomatous Polyposis

    Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975 Jan. 86(1):84-8. [Medline]. Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J.[] The barium enema is a valuable diagnostic tool that helps detect abnormalities in the large intestine (colon).[] English familial adenomatous polyposis autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the[]

  • Blue Rubber Bleb Nevus Syndrome

    Phone: 617-636-5025 Fax #: 617-636-8122 Pediatric surgery, pediatric trauma, congenital disorders requiring surgery in newborns, GI inflammatory diseases in children, pediatric[] No abnormalities were detected on oesophago gastroduodenoscopy.[] "Blue rubber bleb nevus syndrome" is an autosomal dominant trait characterized by multiple cutaneous and extracutaneous angiomas of dark blue color and rubbery consistency[]

  • Peutz-Jeghers Syndrome

    […] risks separately, with the latter disorders discussed in the article by Tabori and colleagues in this CCR Pediatric Oncology Series ( 1 ).[] From Wikidata Jump to navigation Jump to search autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal[] Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous hyperpigmentation, gastrointestinal (GI) hamartmatous polyps, and an increased[]

  • Juvenile Polyp

    Wireless capsule endoscopy for oscure small-bowel disorders: Final results of the first pediatric controlled trial . Clin Gastroenterol Hepatol 2005; 3 :264–270. 21.[] […] in metastatic colon cancer which has spread to the liver Computed tomography (CT) scan of the abdomen and pelvis Screening colonoscopy with biopsy to determine the type and[] An autosomal dominant condition usually associated with mutations in 2 genes – BMPRIA (bone morphogenic protein receptor, type 1A) and SMAD4 (mothers against decapentaplegic[]

  • Gardner Syndrome

    Affiliation: Discipline of Pediatric Otorhinolaryngology, Department of Otorhinolaryngology and Human Communication Disorders, EPM – UNIFESP[] Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant genetic disease characterized by the combined presence of multiple intestinal polyps[] Pediatr Int 2003;45:472-4. [ PUBMED ] 5. Campbell AN, Freedman MH, McClure PD. Autoerythrocyte sensitization. J Pediatr 1983;103:157-60. [ PUBMED ] 6.[]

  • Ehlers-Danlos Syndrome

    The paucity of patients described so far makes this disorder poorly defined at clinical level.[] - camera tests (endoscopy) on the upper and lower gut respectively, to rule out any inflammation or structural abnormalities.[] DOMINANT EHLERS-DANLOS SYNDROME, TYPE V EHLERS-DANLOS SYNDROME, TYPE VI EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE[]

  • Familial Mediterranean Fever

    […] doi: 10.1097/BOR.0000000000000315 PEDIATRIC AND HERITABLE DISORDERS: Edited by Polly J.[] Upper endoscopy and colonoscopy performed at this hospital revealed no significant abnormal findings.[] […] that mimics autosomal dominant inheritance.[]

  • Anemia

    One of the most common pediatric disorders, anemia has many potential causes. Anemia is often a symptom of a disease rather than a disease itself.[] Cell and bone marrow samples can provide clues to anemia-associated abnormalities.[] ORPHA:1047 Synonym(s): - Prevalence: Unknown Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or X-linked dominant or Mitochondrial inheritance[]

  • Selective IgA Immunodeficiency

    Source: Pediatrics, 1966 and Immunologic disorders in infants and children , by E. Richard Stiehm, Hans D. Ochs, Jerry A. Winkelstein.[] Three inappropriately managed patients underwent a colonoscopy and, as described above, 2 were abnormal.[] It may be inherited as an autosomal dominant or autosomal recessive trait. It is usually found in people of European origin.[]

  • Lactose Intolerance

    Lactose Intolerance, in Pediatric Nutrition in Chronic Diseases and Developmental Disorders, 2nd ed. Walberg Ekvall S and Ekvall VK, eds.[] Before the hydrogen breath test, tell your doctor if: You have just had a colonoscopy ; if so, you will need to wait a few weeks after the colonoscopy before this test can[] The variations that promote continued lactase production are considered autosomal dominant, which means one copy of the altered regulatory element in each cell is sufficient[]

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