Literature DB >> 22891008

Branchio-oto-renal syndrome with obstructive sleep apnoea.

Arjun Chavan1, Aravind R T Shastri, Robert I Ross-Russell.   

Abstract

Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterised by branchial arch anomalies, otological and renal abnormalities. To the best of our knowledge, upper airway obstruction has not been hitherto reported in BOR. The authors report a 19-month-old girl with BOR syndrome with features of severe airway obstruction needing tracheostomy.

Entities:  

Mesh：

Year:  2012        PMID： 22891008      PMCID： PMC3433509          DOI： 10.1136/bcr.03.2009.1719

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  4 in total

1.  Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.

Authors:  S Kumar; W J Kimberling; M D Weston; B G Schaefer; M A Berg; H A Marres; C W Cremers
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

2.  A family with the branchio-oto-renal syndrome: clinical and genetic correlations.

Authors:  Alkis M Pierides; Yiannis Athanasiou; Kyproula Demetriou; Michael Koptides; C Constantinou Deltas
Journal:  Nephrol Dial Transplant       Date:  2002-06       Impact factor: 5.992

3.  BOR and BO syndromes are allelic defects of EYA1.

Authors:  C Vincent; V Kalatzis; S Abdelhak; H Chaib; S Compain; J Helias; F M Vaneecloo; C Petit
Journal:  Eur J Hum Genet       Date:  1997 Jul-Aug       Impact factor: 4.246

4.  Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.

Authors:  Eugene H Chang; Maithilee Menezes; Nicole C Meyer; Robert A Cucci; Virginie S Vervoort; Charles E Schwartz; Richard J H Smith
Journal:  Hum Mutat       Date:  2004-06       Impact factor: 4.878
  4 in total
  2 in total

1.  Genomic evolution of 11 type strains within family Planctomycetaceae.

Authors:  Min Guo; Qian Zhou; Yizhuang Zhou; Linfeng Yang; Tianxiang Liu; Jinlong Yang; Yanling Chen; Longxiang Su; Jin Xu; Jing Chen; Feng Liu; Jiapeng Chen; Wenkui Dai; Peixiang Ni; Chengxiang Fang; Ruifu Yang
Journal:  PLoS One       Date:  2014-01-29       Impact factor: 3.240

2.  Anesthetic management of a patient with branchio-oto-renal syndrome.

Authors:  Masanori Tsukamoto; Takeshi Yokoyama
Journal:  J Dent Anesth Pain Med       Date:  2017-09-25
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.