Literature DB >> 1541880

ENT manifestations of Fraser syndrome.

G R Ford1, R M Irving, N S Jones, C M Bailey.   

Abstract

Fraser Syndrome is a rare autosomal recessive disorder (Gupta and Saxena, 1962; Smith, 1982). The most consistent feature is cryptophthalmos (hidden eye), but frequently abnormalities of the ears (meatal stenosis, dysplastic pinna), nose (hypoplastic notched nares, choanal stenosis or atresia), and larynx (glottic web, subglottic stenosis), as well as numerous other anomalies are encountered. We present four cases that have been treated at the Hospital for Sick Children in the last ten years, and describe the various ENT anomalies characteristic of this syndrome.

Entities:  

Mesh:

Year:  1992        PMID: 1541880     DOI: 10.1017/s0022215100118444

Source DB:  PubMed          Journal:  J Laryngol Otol        ISSN: 0022-2151            Impact factor:   1.469


  4 in total

Review 1.  Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.

Authors:  H Konrad; J C Merriam; I S Jones
Journal:  Trans Am Ophthalmol Soc       Date:  1995

Review 2.  Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.

Authors:  A M Slavotinek; C J Tifft
Journal:  J Med Genet       Date:  2002-09       Impact factor: 6.318

3.  Fraser-cryptophthalmos syndrome with colonic atresia.

Authors:  Manish Narang; Manish Kumar; Dheeraj Shah
Journal:  Indian J Pediatr       Date:  2008-02       Impact factor: 1.967

4.  Keyhole anesthesia-Perioperative management of subglottic stenosis: A case report.

Authors:  Anudeep Jafra; Ramandeep Virk; Gourav Mittal; Kanika Arora; Suman Arora
Journal:  Saudi J Anaesth       Date:  2020-05-30
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.