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143 Possible Causes for High Inter- and Intrafamiliar Variability of Phenotype, Posterior Choanal Atresia, Sensorineural Hearing Loss Associated with ELSTs

  • CHARGE Syndrome

    In older individuals, bilateral posterior choanal atresia (BPCA) was predictive of the presence of the three other major criteria and of aortic arch anomalies.[ncbi.nlm.nih.gov] Choanal atresia may be membranous or bony; bilateral or unilateral.[doi.org] Cognitive impairment occurs in some but not all cases (58) Renal abnormalities (32) In older individuals, bilateral posterior choanal atresia is predictive of the presence[symptoma.com]

    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: Posterior Choanal Atresia
  • Posterior Choanal Atresia

    Reported cases of acquired posterior choanal atresia are very few in the English literature.[ncbi.nlm.nih.gov] Bilateral posterior choanal atresia is an uncommon cause of respiratory obstruction in the newborn.[ncbi.nlm.nih.gov] Abstract Forty-eight cases of congenital bony posterior choanal atresia are reviewed revealing a 64% incidence of unilateral atresia with no correlation existing between sex[ncbi.nlm.nih.gov]

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

    Posterior choanal atresia is an uncommon condition, but it is not as rare as the scant radiologic literature would indicate. 2.[ajronline.org] Posterior Choanal Atresia with a report of 10 cases”, J. Laryng., 73 : 603 (1959). Google Scholar 3. Herman, I. P. and Klein, P.[link.springer.com] POSTERIOR CHOANAL ATRESIA, POSTERIOR; PCA edit English choanal atresia congenital disorder of respiratory system Atresia of nares Imperforate nares posterior choanal atresia[wikidata.org]

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

    MalaCards based summary : Choanal Atresia and Lymphedema, also known as lymphedema-posterior choanal atresia syndrome, is related to choanal atresia, posterior and lymphedema[malacards.org] Format Definition A disease characterized by posterior choanal atresia and lymphedema.[uniprot.org] 疾病相关 Defects in PTPN14 are a cause of choanal atresia and lymphedema (CHATLY) [MIM:613611]. A disease characterized by posterior choanal atresia and lymphedema.[abcam.cn]

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

    Choanal Atresia. (A) Endoscopic view: posterior nasal fossa, left side, with impermeable choana; (B) Axial CT scan, showing the choanal atresia at the left side.[intechopen.com]

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

    Choanal atresia results from a persistence of the bucconasal membrane in the posterior nares at the posterior margin of the hard palate.[aafp.org] Choanal atresia, although rare, is the most common congenital anomaly of the nose.[aafp.org] Atresia.[aafp.org]

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

    This is commonly caused by posterior choanal atresia.[ijri.org] atresia Atresia of nares (anterior) (posterior) Congenital stenosis of nares (anterior) (posterior) 748.1 Other anomalies of nose Absent nose Accessory nose Cleft nose Deformity[theodora.com] It typically presents with clinical features that may mimic posterior choanal atresia, [2] and it is important to differentiate it from the latter as there are differences[ijri.org]

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

    This is commonly caused by posterior choanal atresia.[ijri.org] On CT imaging, choanal atresia is diagnosed if the posterior choanal orifice measures less than 0.34 cm unilaterally or if the posterior vomer measures greater than 0.55 cm[shahfacialplastics.com] […] the choanal atresia is significantly reduced in comparison to the healthy side.[egms.de]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Prosthetic Cardiac Valve Dehiscence

    Obstructed posterior nasal choanae (choanal atresia) may be bony or membranous.[ots1.narod.ru]

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