Literature DB >> 22503264

Nager syndrome: a case report.

Ju-Li Lin1.   

Abstract

Nager syndrome (preaxial acrofacial dysostosis) is rare and mostly sporadic. We present a case of Nager syndrome in Taiwan. Craniofacial findings included micrognathia, malar hypoplasia, downslanting palpebral fissures, cleft palate, and ear anomalies. Radial defects consisted of hypoplastic thumb, short forearm, and proximal radioulnar synostosis. Patent ductus arteriosus, atrial septal defect, lower limb deformities, and uncommon flat nasal bridge were noted. Nasal endotube passing through a narrowing oropharynx region or oral airway is life-saving before tracheostomy is performed on patients with Nager syndrome and restricted jaw opening and glossoptosis.
Copyright © 2012. Published by Elsevier B.V.

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Year:  2012        PMID: 22503264     DOI: 10.1016/j.pedneo.2012.01.014

Source DB:  PubMed          Journal:  Pediatr Neonatol        ISSN: 1875-9572            Impact factor:   2.083


  5 in total

1.  Nager acrofacial dysostosis: a rare genetic disorder causing bilateral temperomandibular joint ankylosis in a 10-year-old girl.

Authors:  M Hari Kumar; M Siva Kumar; Vishalakshi Siva Kumar; Sabitha Hari Kumar
Journal:  BMJ Case Rep       Date:  2015-12-23

Review 2.  Review of the Genetic Basis of Jaw Malformations.

Authors:  Mairaj K Ahmed; Xiaoqian Ye; Peter J Taub
Journal:  J Pediatr Genet       Date:  2016-10-12

3.  Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.

Authors:  J C Czeschik; C Voigt; Y Alanay; B Albrecht; S Avci; D Fitzpatrick; D R Goudie; U Hehr; A J Hoogeboom; H Kayserili; P O Simsek-Kiper; L Klein-Hitpass; A Kuechler; V López-González; M Martin; S Rahmann; B Schweiger; M Splitt; B Wollnik; H-J Lüdecke; M Zeschnigk; D Wieczorek
Journal:  Hum Genet       Date:  2013-04-09       Impact factor: 4.132

4.  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

5.  Dental Management of a Patient with Nager Acrofacial Dysostosis.

Authors:  R Bozatlıoğlu; A P Münevveroğlu
Journal:  Case Rep Dent       Date:  2015-10-07
  5 in total

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