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3,451 Possible Causes for Acute Respiratory Failure, Prenatal Diagnosis Available, Severely Disproportionate Short Stature

  • Kyphoscoliosis

    Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the[dovemed.com] This article reports a case study of 'Sue', a 37 year old female who was transferred to a metropolitan hospital's intensive care unit in acute respiratory failure secondary[ncbi.nlm.nih.gov] short-limb short stature Hydrops fetalis Short palm Enlargement of the proximal femoral epiphysis Decreased cervical spine mobility Osteopenia Sloping forehead Skeletal dysplasia[mendelian.co]

  • Mucopolysaccharidosis 6

    Tests Available ARSB Gene Sequencing Forms and Documents Test Details Clinical Utility: Confirmation of biochemical diagnosis Carrier testing Prenatal diagnosis in at risk[genedx.com] (requiring additional BMT) in 4 patients, acute respiratory distress syndrome in 3 patients, and death in 4 patients.[jamanetwork.com] 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]

  • Duchenne Muscular Dystrophy

    Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys.[ncbi.nlm.nih.gov] The resultant respiratory failure can easily occur from the underlying progressive nocturnal hypoventilation and hypoxia or from an acute cardiac insufficiency.[emedicine.medscape.com] Carrier and prenatal diagnostics, as well as pre-implantation genetic diagnostics (PGD) in association with IVF (in vitro fertilization), are available in families where the[socialstyrelsen.se]

    Missing: Severely Disproportionate Short Stature
  • Acute Intermittent Porphyria

    Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.[sema4genomics.com] failure.[ncbi.nlm.nih.gov] We describe a 60-year-old male patient with acute intermittent porphyria (AIP) who presented with initial abdominal pain and subsequent quadriplegia and respiratory failure[ncbi.nlm.nih.gov]

    Missing: Severely Disproportionate Short Stature
  • Becker Muscular Dystrophy

    […] information leaflet available for Manifesting Carriers.[dfsg.org.uk] ., respiratory failure, cardiac disease), or to both. CONCLUSIONS: Use of succinylcholine in children with dystrophinopathy is contraindicated.[ncbi.nlm.nih.gov] Carrier and prenatal diagnostics, as well as pre-implantation genetic diagnostics (PGD) in association with IVF (in vitro fertilization), are available in families where the[socialstyrelsen.se]

    Missing: Severely Disproportionate Short Stature
  • Tracheomalacia

    […] of the condition Note: There are no prenatal diagnostic tests currently available to determine the occurrence of tracheomalacia at birth.[dovemed.com] Here, we report a case of acute respiratory failure in which subglottic stenosis was accidentally identified during endotracheal intubation.[ncbi.nlm.nih.gov] She was found to have acute hypoxic respiratory failure and admitted to the intensive care unit (ICU) for endotracheal intubation, intravenous vasopressors, systemic corticosteroids[tandfonline.com]

    Missing: Severely Disproportionate Short Stature
  • Cerebellar Hemorrhage

    BACKGROUND: Despite significant progress in fetal neuroimaging techniques, only a few well-documented examples of prenatal cerebellar hemorrhages are available in the literature[ncbi.nlm.nih.gov] In the majority of these individuals, the diagnosis of prenatal cerebellar hemorrhages led to termination of pregnancy or death occurred in utero; data about postnatal outcome[ncbi.nlm.nih.gov]

    Missing: Severely Disproportionate Short Stature
  • Glycogen Storage Disease Type 2

    Prenatal diagnosis This is usually available if required by looking for the gene fault in a chorionic villus biopsy. Is there support?[contact.org.uk] Dingyu Tan, Jun Xu, Yi Yang, Ming Gu and Xuezhong Yu, Postoperative acute respiratory failure caused by adult‐onset Pompe disease, The Clinical Respiratory Journal, 12, 1,[dx.doi.org] Tests Available GAA Gene Sequencing Forms and Documents Test Details Clinical Utility: Confirmation of biochemical diagnosis Carrier testing Prenatal diagnosis in at risk[genedx.com]

    Missing: Severely Disproportionate Short Stature
  • Myotonic Dystrophy

    Prenatal diagnosis is readily available via mutation analysis using amniotic fluid cells or chorionic villi.[cancertherapyadvisor.com] Prenatal diagnosis should be offered to at-risk couples regardless of which parent is affected because of the potential - albeit small for paternal transmission - for repeat[clinicaladvisor.com] DNA testing is 100% sensitive (able to determine the defect) and widely available. Prenatal diagnosis to determine if a fetus is affected is also available.[encyclopedia.com]

    Missing: Severely Disproportionate Short Stature
  • Alcohol Abuse

    NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. Office of the Surgeon General (US); National Institute on Alcohol Abuse and Alcoholism (US); Substance Abuse and Mental Health Services Administration (US). The Surgeon General's Call to Action To Prevent and Reduce[…][ncbi.nlm.nih.gov]

    Missing: Prenatal Diagnosis Available Severely Disproportionate Short Stature