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6,622 Possible Causes for All Reported Mutations Have Occurred De Novo, Majority Are Isolated Cases, Pediatric Disorder

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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]

  • Respiratory Syncytial Virus Infection

    RSV cases were correlated with monthly rainfall and humidex. RESULTS: There were 272 positive isolates detected from 4305 clinical samples (positivity rate 6.3%).[ncbi.nlm.nih.gov] The majority of cases occurred in children CONCLUSIONS: The Top End of the Northern Territory has a distinct RSV season that correlates with rainfall and humidex, which differs[ncbi.nlm.nih.gov]

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

    In the last decade, NoVs were recognized as one of the major cause of outbreaks and of sporadic cases of acute gastroenteritis throughout the world.[scielo.br] This 1828 work built upon that of Bichat and Laennec, who provided the initial scientific basis of medicine, and classified pediatric disorders (including infectious diseases[nature.com] 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
  • Scarlet Fever

    Macrolide- and tetracycline-resistant Streptococcus pyogenes emm12 isolates represent the majority of clinical cases.[ncbi.nlm.nih.gov] […] autoimmune neuropsychiatric disorders associated with streptococcal (PANDAS) infections.[medicalnewstoday.com] The majority of cases resulted in the isolation of Streptococcus pyogenes emm12 with multiple antibiotic resistances.[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo
  • Atrial Septal Defect

    In the majority of cases it is associated with other cardiac abnormalities such as PFO and atrial septal defects as well as mitral valve prolapse or atrial arrhythmias. 27[ncbi.nlm.nih.gov] Alex Thompson, Dawn Hackman and Larry Burd, Mortality in Fetal Alcohol Spectrum Disorders, Open Journal of Pediatrics, 04, 01, (21), (2014).[doi.org] Each year, we treat hundreds of children, adolescents and even adults with a wide variety of heart defects and disorders.[web.archive.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Subdural Hematoma

    Isolated interhemispheric/parafalcine subdural hematomas are seen more frequently in children and are common in cases of non-accidental trauma.[radiopaedia.org] Headache is the most common symptom of MTBI. 4 Possible causes include posttraumatic migraine, tension headache, exacerbation of a preexisting headache disorder, analgesic[dx.doi.org] In the vast majority of cases, CT scans are sufficient to make the diagnosis and manage these patients.[radiopaedia.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Facial Nerve Paralysis of the Newborn

    cases of aplasia/hypoplasia of facial nerve or their nuclei or various syndromic associations such as Poland syndrome (congenital facial palsy with absent pectoralis major[ijri.org] Pediatr Ann. 1976;5:518–35. 7. Nazif MM, Davis H, McKibben DH, Ready MA. Oral disorders. In: Zitelli BJ, Davis HW, eds. Atlas of pediatric physical diagnosis. 2d ed.[aafp.org] […] maternal bony protuberance during birth, [4] or abnormal intrauterine posture leading to compression of the nerve between jaw and shoulder. [5] Developmental causes include isolated[ijri.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Cryptorchidism

    Unilateral or bilateral cryptorchidism is an isolated anomaly in the majority of cases, with evidence to date suggesting that it is a complex disorder resulting from interactions[ncbi.nlm.nih.gov] PURPOSE: Cryptorchidism is one of the most common pediatric disorders of the male endocrine glands and the most common genital disorder identified at birth.[ncbi.nlm.nih.gov] Abstract BACKGROUND: Undescended testis (UDT) is the most common disorder in pediatric surgery and one of the most important risk factors for malignancy and subfertility.[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo
  • Bronchiolitis

    The etiology is viral in the majority of the cases and RSV is the most commonly isolated agent. The disease is more common in younger children under 2 years of age.[clinicaltrials.gov] This process is important in managing the signs and symptoms of respiratory distress that is secondary to many pediatric acute respiratory disorders.[vtherm.com] To help physicians better approach the disorder, the American Academy of Pediatrics (AAP) released an updated guideline (pediatrics.aappublications.org) on diagnosing, managing[aafp.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Rolandic Epilepsy

    In the majority of cases, seizures become less frequent very quickly and many even disappear entirely.[aoporphan.com] Sarah J Spence and Mark T Schneider, The Role of Epilepsy and Epileptiform EEGs in Autism Spectrum Disorders, Pediatric Research, 65, 6, (599), (2009).[doi.org] Tharp, An Overview of Pediatric Seizure Disorders and Epileptic Syndromes, Epilepsia, 28, s1, (S36-S44), (2007).[doi.org]

    Missing: All Reported Mutations Have Occurred De Novo