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Nager Acrofacial Dysostosis

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Nager acrofacial dysostosis, described by Nager and deRenier in 1948, is a mandibulofacial dysostosis associated with preaxial limb abnormalities. It is a very rare disorder with <100 reported cases by 2012 (Schlieve et al. 2012).

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References

  • Ansart-Franquet, H., Houfflin-Debarge, V., Ghoumid, J., et al. (2009). Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy. Prenatal Diagnosis, 29, 187–189.

    Article  PubMed  Google Scholar 

  • Aylsworth, A. S., Lin, A. E., & Friedman, P. A. (1991). Nager acrofacial dysostosis: Male-to-male transmission in 2 families. American Journal of Medical Genetics, 41, 83–88.

    Article  CAS  PubMed  Google Scholar 

  • Bernier, F. P., Caluseriu, O., Ng, S., et al. (2012). Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. American Journal of Human Genetics, 90, 925–933.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Chemke, J., Mogilner, B. M., Ben-Itzhak, I., et al. (1988). Autosomal recessive inheritance of Nager acrofacial dysostosis. Journal of Medical Genetics, 25, 230–232.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Couyoumjian, C. A., Treadwell, M. C., & Barr, M. (2008). Prenatal sonographic diagnosis of Nager acrofacial dysostosis with unilateral upper limb involvement. Prenatal Diagnosis, 28, 964–966.

    Article  PubMed  Google Scholar 

  • Czeschik, J. C., Voigt, C., Alanay, Y., et al. (2013). Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Human Genetics, 132, 885–898.

    Article  CAS  PubMed  Google Scholar 

  • Genee, E. (1969). An extensive form of Mandibulofacial dysostosis. Journal de Génétique Humaine, 17, 45–52.

    CAS  PubMed  Google Scholar 

  • Hall, B. D. (1989). Nager acrofacial dysostosis: Autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son. American Journal of Medical Genetics, 33, 394–397.

    Article  CAS  PubMed  Google Scholar 

  • Herrmann, B. W., Karxon, R., & Molter, D. W. (2005). Otologic and audiologic features of Nager acrofacial dysostosis. International Journal of Pediatric Otorhinolaryngology, 69, 1053–1059.

    Article  PubMed  Google Scholar 

  • Kennedy, S. J., & Teebi, A. S. (2004). Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. American Journal of Medical Genetics. Part A, 129A, 73–76.

    Article  PubMed  Google Scholar 

  • Le Merrer, M., Cikuli, M., Ribier, J., et al. (1989). Acrofacial dysostoses. American Journal of Medical Genetics, 33, 318–322.

    Article  PubMed  Google Scholar 

  • McDonald, M. T., & Gorski, J. L. (1993). Nager acrofacial dysostosis. Journal of Medical Genetics, 30, 779–782.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Miller, M., Fineman, R., & Smith, D. W. (1979). Postaxial acrofacial dysostosis syndrome. Journal of Pediatrics, 95, 970–975.

    Article  CAS  PubMed  Google Scholar 

  • Nager, F. R., & de Renier, J. P. (1948). Das Gehorogan bei den angeborenen Kopfmissbildungen. Pract Otorhinolaryngol, 10(Suppl 2), 1–128.

    Google Scholar 

  • Ng, S. B., Buckingham, K. J., Lee, C., et al. (2010). Exome sequencing identifies the cause of a mendelian disorder. Nature Genetics, 42, 30–35.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Opitz, C., Stoll, C., & Ring, P. (2000). Nager syndrome. Problems and possibilities of therapy. Journal of Orofacial Orthopedics, 61, 226–236.

    Article  CAS  PubMed  Google Scholar 

  • Rainger, J., Bengani, H., Campbell, L., et al. (2012). Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. Human Molecular Genetics, 21, 3969–3983.

    Article  CAS  PubMed  Google Scholar 

  • Trainor, P. A., & Andrews, B. T. (2013). Acrofacial dysostosis: Etiology, pathogenesis and management. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 163C, 283–294.

    Article  Google Scholar 

  • Waggoner, D. J., Ciske, D. J., Dowton, S. B., et al. (1999). Deletion of 1q in a patient with acrofacial dysostosis. American Journal of Medical Genetics, 82, 301–304.

    Article  CAS  PubMed  Google Scholar 

  • Wieczorek, D. (2013). Human facial dysostoses. Clinical Genetics, 83, 499–510.

    Article  CAS  PubMed  Google Scholar 

  • Wiedemann, H. R. (1973). Malformation-retardation syndrome with bilateral absence of the 5th rays in both hands and feet, cleft palate, malformed ears and eyelids, radioulnar synostosis (author’s transl). Klinische Pädiatrie, 185, 181–186.

    CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, 71130, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2014). Nager Acrofacial Dysostosis. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_266-1

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_266-1

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

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