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6,235 Possible Causes for All Reported Mutations Have Occurred De Novo, Pediatric Disorder, Posterior Rib Gap Defects

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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] Cerebro-costo-mandibular syndrome (CCMS) is an uncommon multiple congenital anomaly syndrome characterized by severe micrognathia, posterior rib-gap defects, and developmental[ncbi.nlm.nih.gov]

  • 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 Posterior Rib Gap Defects
  • Vitamin D Deficiency

    Hypocalcemic and hypercalcemic disorders in children. Current Problems in Pediatrics, Vol. 19, Issue. 10, p. 497. CrossRef Google Scholar Poskitt, E.M.E. 1988.[doi.org]

    Missing: All Reported Mutations Have Occurred De Novo Posterior Rib Gap Defects
  • King Syndrome

    "Nature of auditory processing disorder in children". Pediatrics. 126 (2): e382–390. doi : 10.1542/peds.2009-2826. PMID 20660546.[en.wikipedia.org] Rib-Gap Defects MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 MICROCEPHALY, SHORT STATURE, AND[rgd.mcw.edu] Obstetrical and Pediatric Anesthesia 428 Downloads 7 Citations Abstract Purpose The King-Denborough syndrome (KDS) is a rare disorder that is associated with myopathy, susceptibility[link.springer.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Acute Alcohol Intoxication

    Psychiatry Association Text Revision Estimated blood alcohol concentrations for child and adolescent drinking and their implications for screening instruments, Pediatrics[academic.oup.com] The inactive ALDH2(2) allele is dominant, J Clin Invest, 1989, vol. 83 (pg. 314 - 6 ) Diagnostic and Statistical Manual of Mental Disorders, 2000 4th ed Washington, DC American[academic.oup.com]

    Missing: All Reported Mutations Have Occurred De Novo Posterior Rib Gap Defects
  • Constipation

    Mousa, The value of fluoroscopic defecography in the diagnostic and therapeutic management of defecation disorders in children, Pediatric Radiology, 45, 2, (173), (2015).[doi.org] Major symptoms and signs of digestive tract disorders. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed.[nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo Posterior Rib Gap Defects
  • 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.[childrenshospital.org] In addition to an experienced, compassionate nurse coordinator (who provides your child and family support, education and care coordination), Nemours’ pediatric blood disorder[nemours.org] How can I manage anemia if my child has an inherited red blood cell disorder?[healthychildren.org]

    Missing: All Reported Mutations Have Occurred De Novo Posterior Rib Gap Defects
  • Urinary Tract Infection

    History The classic symptoms of urinary tract infection (UTI) in the adult are primarily dysuria with accompanying urinary urgency and frequency. A sensation of bladder fullness or lower abdominal discomfort is often present. Because of the referred pain pathways, even simple lower UTI may be accompanied by flank[…][emedicine.medscape.com]

    Missing: All Reported Mutations Have Occurred De Novo Posterior Rib Gap Defects
  • Richards-Rundle Syndrome

    Corticotrophin-releasing hormone type 1 receptor gene (CRHR1) variants predict posttraumatic stress disorder onset and course in pediatric injury patients.[connects.catalyst.harvard.edu] Rib-Gap Defects MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 MICROCEPHALY, SHORT STATURE, AND[rgd.mcw.edu] Pediatric Dermatology Pediatric Endocrinology Pediatric Neurosurgery Physical Therapy Plastic & Reconstructive Surgery Podiatry Prompt Care Pulmonary Radiology Refractive[springfieldclinic.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Weismann Netter Syndrome

    Taybi H, Lachman RS (1990) Radiology of syndromes, metabolic disorders and skeletal dyslasias 3rd edn. Year Book. Chicago, p 488 Google Scholar 35.[link.springer.com] Rib-Gap Defects MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 MICROCEPHALY, SHORT STATURE, AND[rgd.mcw.edu] Curr Opin Pediatr. 2000, 12: 354-358. 10.1097/00008480-200008000-00013.[jmedicalcasereports.biomedcentral.com]

    Missing: All Reported Mutations Have Occurred De Novo