Literature DB >> 4006277

Gustatory lacrimation in association with the branchio-oto-renal syndrome.

J W Preisch, D Bixler, F D Ellis.   

Abstract

Branchio-oto-renal (BOR) syndrome is a developmental complex presenting with various combinations of ear pits, branchial cleft cysts, deafness and renal anomalies, which is inherited as an autosomal dominant trait. This report describes a father and 2 children with BOR syndrome in which gustatory lacrimation (GL) was also present in 2 of them. GL is considered to be a rare, non-hereditary type of anomalous, cranial nerve-end organ innervation. Since lacrimal stenosis, which can clinically mimic GL, is also a feature of the BOR syndrome, future reports require lacrimal reflex testing and duct patency evaluation to define this variation in the BOR phenotype.

Entities:  

Mesh:

Year:  1985        PMID: 4006277     DOI: 10.1111/j.1399-0004.1985.tb00240.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.

Authors:  S Kumar; K Deffenbacher; H A Marres; C W Cremers; W J Kimberling
Journal:  Am J Hum Genet       Date:  2000-04-03       Impact factor: 11.025

Review 2.  Congenital aberrant tearing: a re-look.

Authors:  Marilyn T Miller; Kerstin Strömland; Liana Ventura
Journal:  Trans Am Ophthalmol Soc       Date:  2008

3.  Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree.

Authors:  R König; S Fuchs; C Dukiet
Journal:  Eur J Pediatr       Date:  1994-06       Impact factor: 3.183

Review 4.  Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.

Authors:  Tâmara Andrade Lindau; Ana Cláudia Vieira Cardoso; Natalia Freitas Rossi; Célia Maria Giacheti
Journal:  Int Arch Otorhinolaryngol       Date:  2013-11-05
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.