scholarly journals Nager syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Nager Syndrome

The first reported treatment of Nager syndrome associated hearing loss with bone-anchored hearing aids: case report

2011 ◽  
Vol 126 (1) ◽  
pp. 76-78 ◽  
Author(s):  
G P Davies ◽  
I J M Johnson
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Literature Review ◽  
Current Literature ◽  
Hearing Aids ◽  
Clinical Case ◽  
Conductive Hearing Loss ◽  
First Case ◽  
Nager Syndrome ◽  
Conductive Hearing

AbstractObjective:To report the first case of treatment of Nager syndrome associated conductive hearing loss with bone-anchored hearing aids, in a three-year-old boy.Method:Clinical case report and current literature review regarding the use of bone-anchored hearing aids in the treatment of conductive hearing loss in children.Results:A three year eight month old boy with Nager syndrome was successfully treated for conductive hearing loss using bilateral bone-anchored hearing aids.Conclusion:This is the first case report of the use of bone-anchored hearing aids to treat Nager syndrome associated conductive hearing loss. Treatment was safe and successful in this case.

scholarly journals Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

2012 ◽  
Vol 90 (5) ◽  
pp. 925-933 ◽  
Author(s):  
Francois P. Bernier ◽  
Oana Caluseriu ◽  
Sarah Ng ◽  
Jeremy Schwartzentruber ◽  
Kati J. Buckingham ◽  
...  
Keyword(s):  
Nager Syndrome

Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: Prenatal and postnatal late replication studies

1993 ◽  
Vol 46 (4) ◽  
pp. 379-383 ◽  
Author(s):  
Roberto T. Zori ◽  
Brian A. Gray ◽  
Angela Bent-Williams ◽  
Daniel J. Driscoll ◽  
Charles A. Williams ◽  
...  
Keyword(s):  
Late Replication ◽  
Replication Studies ◽  
Nager Syndrome

Nager syndrome

2017 ◽  
Vol 29 (9) ◽  
pp. 20-20
Author(s):  
Doreen Crawford ◽  
Annette Dearmun
Keyword(s):  
Nager Syndrome

Differential diagnosis of Nager acrofacial dysostosis syndrome: Report of four patients with Nager syndrome and discussion of other related syndromes

1983 ◽  
Vol 14 (2) ◽  
pp. 209-224 ◽  
Author(s):  
Fahed Halal ◽  
Jürgen Herrmann ◽  
Philip D. Pallister ◽  
John M. Opitz ◽  
Marie-Françoise Desgranges ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Nager Syndrome ◽  
Syndrome Report

14. Prenatal diagnosis of Acrofacial Dysostosis type 1 (Nager syndrome) by chromosomal microarray at the exon level

2021 ◽  
Vol 252-253 ◽  
pp. S5
Author(s):  
Holli M. Drendel ◽  
Carolyn Wilson ◽  
Pablo Sagaribay ◽  
Renee Casey ◽  
Elissa Barnes ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Microarray ◽  
Exon Level ◽  
Nager Syndrome

Spontaneous expression of FRA3P in a patient with Nager syndrome

2003 ◽  
Vol 118A (3) ◽  
pp. 293-295 ◽  
Author(s):  
Luca Scapoli ◽  
Marcella Martinelli ◽  
Furio Pezzetti ◽  
Elisabetta Carahelli ◽  
Francesco Carinci ◽  
...  
Keyword(s):  
Nager Syndrome ◽  
Spontaneous Expression

A Case Report of Absent Epiglottis in Children with Nager Syndrome: Its Impact on Swallowing

2017 ◽  
Vol 54 (6) ◽  
pp. 754-757 ◽  
Author(s):  
Sok Yan Tay ◽  
Woei Shyang Loh ◽  
Thiam Chye Lim
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Clinical Report ◽  
Pierre Robin Sequence ◽  
Literature Report ◽  
Robin Sequence ◽  
Aspiration Risk ◽  
Nager Syndrome ◽  
Pierre Robin

Objective This clinical report is the first literature report exploring the issues of an absent epiglottis in children diagnosed with Nager syndrome. Absent epiglottis has previously been described in children with Pierre Robin sequence and other syndromes. Conclusion The function of the epiglottis and its contribution to swallowing has always been debated. In this article and from our literature review, we felt that absent epiglottis possibly contributed to the aspiration risk and may partly explain the long-term feeding issues in these children despite corrective surgeries.

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