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1,902 Possible Causes for High Inter- and Intrafamiliar Variability of Phenotype, Patent Ductus Arteriosus, Sensorineural Hearing Loss Associated with ELSTs

  • CHARGE Syndrome

    In this report, we describe a patient with bilateral hearing impairment, unusually-shaped ears, no intellectual disability and a patent ductus arteriosus.[ncbi.nlm.nih.gov] We report here a case of CHARGE syndrome with colobomas, cleft lip and palate, patent ductus arteriosus, undescended testes, and a coronal clival cleft which has not been[ncbi.nlm.nih.gov] He had patent ductus arteriosus, small testicles, growth retardation, auricular deformity, left semicircular canal aplasia, and a de novo nonsense mutation (p.Ser705X) of[ncbi.nlm.nih.gov]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Von Hippel-Lindau Disease

    ) hearing loss, sensorineural, associated with elsts Genitourinary Kidneys: multiple renal cysts renal hemangioblastoma renal cell carcinoma (e.g., ) Genitourinary Internal[malacards.org] The majority of the patients had associated audiovestibular symptoms, including sensorineural hearing loss (84% of ears), tinnitus (73%), and vertigo (68%) that did not correlate[journal.frontiersin.org] Respiratory Lung: pulmonary hemangiomas Abdomen Pancreas: multiple pancreatic cysts pancreatic hemangioblastoma Head And Neck Ears: vertigo tinnitus endolymphatic sac tumors (elsts[malacards.org]

    Missing: Patent Ductus Arteriosus
  • Atrial Septal Defect

    , and patent ductus arteriosus.[ncbi.nlm.nih.gov] Other Defects Patent ductus arteriosus (PDA). Simply put, this is a hole in your baby ’s aorta that doesn’t close.[webmd.com] patent [ pa tent ] 1. open, unobstructed, or not closed. 2. apparent, evident. patent ductus arteriosus abnormal persistence of an open lumen in the ductus arteriosus, between[medical-dictionary.thefreedictionary.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Left Cardiac Ventricle Disorder

    This is a condition called patent ductus arteriosus.[nyulangone.org] Condition Description: Atrioventricular septal defect (AVSD) Patent ductus arteriosus. Patent ductus arteriosus. PA radiograph. Right anterior oblique view.[bcm.edu] Patent ductus arteriosus As a baby develops in the womb, a blood vessel called the ductus arteriosus connects the pulmonary artery directly to the aorta.[nhs.uk]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Patent Ductus Arteriosus

    Patent ductus arteriosus (PDA) is a heart condition caused by the persistence of the ductus arteriosus.[symptoma.com] ductus arteriosus Patent Ductus Arteriosus Causes from US Department of Health and Human Services Patent Ductus Arteriosus from Merck Patent ductus arteriosus information[en.wikipedia.org] […] of patent ductus arteriosus in infancy.[doi.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Tetralogy of Fallot

    ductus arteriosus.[ncbi.nlm.nih.gov] Perioperative management of a patient with Dandy-Walker malformation (DWM) with tetralogy of Fallot (TOF), patent ductus arteriosus, and pulmonary artery stenosis is a great[ncbi.nlm.nih.gov] Patent ductus arteriosus (36, 22.64%), right-sided aortic arch (29, 18.24%), and pulmonary valve stenosis (23, 14.47%) were the most common associated extracardiac vascular[ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Aortic Valve Insufficiency

    ductus arteriosus, also associated with hand anomalies Erdheim cystic medial necrosis (familial aortic dissection) Turner syndrome (bicuspid aortic valve occurs in 30% of[chd-uk.co.uk] […] valve is present in 50% of patients with these lesions) Williams syndrome (bicuspid aortic valve associated with supravalvular aortic stenosis occurs in 11.6% of cases) Patent[chd-uk.co.uk]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Extreme Fetal Immaturity

    Patent Ductus Arteriosus (PDA) – This is a cardiac disorder that results in breathing difficulties after delivery because of an open blood vessel called the ductus arteriosus[americanpregnancy.org] ductus arteriosus, an unclosed hole in the main blood vessel of the heart anemia, a lack of red blood cells for transporting oxygen throughout the body neonatal respiratory[healthline.com] Patent ductus arteriosus can be managed medically by using fluid restriction and indomethacin (prostaglandin inhibitor) therapy or surgically, by ductal ligation.[hawaii.edu]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Paraneoplastic Syndrome

    What Happens in Patent Ductus Arteriosus?[kidshealth.org] Patent ductus arteriosus and pregnancy Most women who have a small patent ductus arteriosus can tolerate pregnancy without problems.[mayoclinic.org] […] of patent ductus arteriosus in infancy.[ahajournals.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Dehydration

    Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).[ahajournals.org] Slavotinek A...Super M 9217229 1997 9 Familial occurrence of patent ductus arteriosus. 8 71 Sletten LJ...Pierpont ME 7645594 1995 10 A large family with patent ductus arteriosus[malacards.org] Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.[medical-dictionary.thefreedictionary.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs

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