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Abstract

Nager Syndrome is a rare autosomal dominant or recessive defect also called preaxial acrofacial dysostosis due to dysfunction of development of the first and second branchial arches. Nager syndrome is due to defect of the SF3B4 gene. These individuals have a unique and rare oromandibular hypogenesis syndrome with associated limb abnormalities which can cause severe physical and psychological challenges for the life of this individual. Comprehensive medical and behavioral management is essential to maximize the potential of those with this rare syndrome.

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References

  1. Nager FR, de Reynier JP. Das Gehorogan bei den angeborenen Kopfmisbildungen. Pract Otorhinolaryngol. 1948;10:1–7.

    Google Scholar 

  2. Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, et al. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet. 2013;132(8):885–98.

    Article  CAS  PubMed  Google Scholar 

  3. Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM. Haploinsufficiency of SF3B4, a component of the Pre-mRNA Spliceosomal Complex, causes Nager syndrome. Am J Hum Genet. 2012;90(5):925–33.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Petit F, Escande F, Jourdain A, Porchet N, Amiel J, Doray B, et al. Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. Clin Genet. 2013. doi:10.1111/cge.12259.

    Google Scholar 

  5. Lin JL. Nager syndrome: a case report. Pediatric Neonatol. 2012;53(2):147–50.

    Article  Google Scholar 

  6. Wieczorek D. Human facial dysostoses. Clin Genet. 2013;83(6):499–510.

    Article  CAS  PubMed  Google Scholar 

  7. Trainor PA, Andrews BT. Facial dysostoses: etiology, pathogenesis, and management. Am J Med Genet C Semin Med Genet. 2013;163(4):283–94.

    Article  Google Scholar 

  8. Van Lierde KM, Luyten A, Mortier G, Tijskens A, Bettens K, Vermeersch H. Overall intelligibility, articulation, resonance, voice and language in a child with Nager syndrome. Int J Pediatr Otorhinolaryngol. 2011;75(2):270–6.

    Article  PubMed  Google Scholar 

  9. Ho AS, Aleshi P, Cohen SE, Koltai PJ, Cheng AG. Airway management in Nager syndrome. Int J Pediatr Otorhinolaryngol. 2008;72(12):1885–8.

    Article  PubMed  Google Scholar 

  10. Davies GP, Johnson IJ. The first reported treatment of Nager syndrome associated hearing loss with bone-anchored hearing aids: case report. J Laryngol Otol. 2012;126(1):76–8.

    Article  CAS  PubMed  Google Scholar 

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Correspondence to Donald E. Greydanus M.D., DrHC (Athens) .

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Greydanus, D.E., Pratt, H.D., Pryson, M. (2016). Other Syndromes: Nager Syndrome. In: Rubin, I.L., Merrick, J., Greydanus, D.E., Patel, D.R. (eds) Health Care for People with Intellectual and Developmental Disabilities across the Lifespan. Springer, Cham. https://doi.org/10.1007/978-3-319-18096-0_75

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  • DOI: https://doi.org/10.1007/978-3-319-18096-0_75

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-18095-3

  • Online ISBN: 978-3-319-18096-0

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