Literature DB >> 23119544

A.B.R. in Nager type acrofacial dysostosis syndrome.

A Mishra1, G K Shukla, N Bhatia.   

Abstract

The acrofacial dysostosis of nager is a very rare hereditary syndrome in which findings of mandibulofacial dysostosis are associated with defects of the limbs. The developmental defects of the mesoderm if accompany the neurectodermal malformations, result in mental retardation and sensorineural hearing impairment. The conductive type of hearing loss is mostly encountered in Nager's syndrome but here we present a case with sensorineural involvement, along with its analysis of auditory brainstem evoked response audiometry (ABR).

Entities:  

Year:  1999        PMID: 23119544      PMCID: PMC3451038          DOI: 10.1007/BF02996529

Source DB:  PubMed          Journal:  Indian J Otolaryngol Head Neck Surg        ISSN: 2231-3796


  9 in total

1.  The Nagar syndrome (acrofacial dysostosis): evidence for autosomal dominant inheritance.

Authors:  R B Lowry
Journal:  Birth Defects Orig Artic Ser       Date:  1977

2.  Acrofacial dysostosis of Nager and ocular abnormalities.

Authors:  L Pavone; F Mollica; G Pero; G Tigano; H Giancarlo; K Mattucci; M Setzen
Journal:  Ophthalmic Paediatr Genet       Date:  1986-08

3.  A significant feature of Nager's syndrome: palatal agenesis.

Authors:  I T Jackson; B Bauer; J Saleh; C Sullivan; L C Argenta
Journal:  Plast Reconstr Surg       Date:  1989-08       Impact factor: 4.730

4.  Nager syndrome: an update of speech and hearing characteristics.

Authors:  M D Meyerson; J B Nisbet
Journal:  Cleft Palate J       Date:  1987-04

5.  The inadequacy of click-evoked auditory brainstem responses in audiological applications.

Authors:  J J Eggermont
Journal:  Ann N Y Acad Sci       Date:  1982       Impact factor: 5.691

6.  Auditory brainstem responses as indicators of hearing aid performance.

Authors:  P Kileny
Journal:  Ann Otol Rhinol Laryngol       Date:  1982 Jan-Feb       Impact factor: 1.547

7.  Comparison of auditory brain stem response latency norms for premature infants.

Authors:  B A Weber
Journal:  Ear Hear       Date:  1982 Sep-Oct       Impact factor: 3.570

8.  Nager acrofacial dysostosis. An adult male with severe neurological deficit.

Authors:  J P Fryns; A Bonhomme; H Van den Berghe
Journal:  Genet Couns       Date:  1996

9.  Miller postaxial acrofacial dysostosis. The phenotypic changes with age.

Authors:  K Chrzanowska; J P Fryns
Journal:  Genet Couns       Date:  1993
  9 in total
  1 in total

1.  Molecular mechanisms of hearing loss in Nager syndrome.

Authors:  Santosh Kumar Maharana; Jean-Pierre Saint-Jeannet
Journal:  Dev Biol       Date:  2021-04-14       Impact factor: 3.148

  1 in total

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