RT Book, Section
A1 Hernandez, Amy L.
A1 Rehm, Heidi
A2 Murray, Michael F.
A2 Babyatsky, Mark W.
A2 Giovanni, Monica A.
A2 Alkuraya, Fowzan S.
A2 Stewart, Douglas R.
SR Print(0)
ID 1102706372
T1 Syndromic Hearing Loss
T2 Clinical Genomics: Practical Applications in Adult Patient Care
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 9780071622448
LK accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102706372
RD 2024/04/18
AB Disease  summary:Usher  syndrome  is  characterized  by  sensorineural  hearing  loss  and  retinitis  pigmentosa  (RP)  with  or  without  vestibular  dysfunction.Pendred  syndrome  is  characterized  by  nonsyndromic  hearing  loss  with  enlarged  vestibular  aqueducts  (EVA)  and/or  Mondini  dysplasia  (incomplete  partition  or  common  cavity  malformation  of  the  inner  ear)  in  combination  with  euthyroid  goiter  or  thyroid  dysfunction.  DFNB4  hearing  loss  is  characterized  by  the  same  features  of  Pendred  syndrome  without  thyroid  abnormalities.Hereditary  basis:Usher  syndrome  is  inherited  in  an  autosomal  recessive  manner.Pendred  syndrome  or  DFNB4  hearing  loss  is  inherited  in  an  autosomal  recessive  manner.  However,  there  are  rare  reports  of  possible  digenic  inheritance  involving  the  FOXI1  and  KCNJ10  genes.Differential  diagnosis:Usher  syndromeNonsyndromic  hearing  loss  or  nonsyndromic  RPDeafness-dystonia-optic  neuronopathy  (DDON)Mitochondrial  disordersDiabetic  neuropathyViral  infectionsAlstrom  syndromeBardet-Biedl  syndromePendred  syndromeBranchiootorenal  syndrome  (BOR)Brachiooto  syndrome  (BO)Waardenburg  syndromeDeafness  associated  with  the  recessive  form  of  distal  renal  tubular  acidosis