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Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado
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2013, Number 1

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Rev Esp Med Quir 2013; 18 (1)

Craneofacial dysostosis. Nager syndrome

Vizzuett MR, Villalobos NID, Rodríguez AD
Full text How to cite this article

Language: Spanish
References: 9
Page: 75-78
PDF size: 157.60 Kb.


Key words:

Nager syndrome, craniofacial dysostosis.

ABSTRACT

This paper repots the case of a newborn from the state of Guerrero, referred to Neonatology service at 12 days of life with diagnosis of dismorphic syndrome. During his hospitalization patient was evaluated by Orthopedics, Otolaryngology, Maxilofacial Surgery and Ophtalmology services. Differential diagnoses were Treacher-Collins and Miller syndromes.


REFERENCES

  1. Meyerson MD, Nisbet JB. Nager syndrome: an update of speech and hearing characteristics. Cleft Palate J 1987;24:142-151.

  2. Zori RT, Gray BA, Driscoll DJ, Williams CA, et al. Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation. Am J Med Genet 1993;46:379-383.

  3. Thompson E, Cadbury R, Baraister M. The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot. Clinical Genetics Department. London: Institute of Child Health, 1985.

  4. Chemke J, Mogilner BM, Ben-Itzhak I, Zurkowski L. Autosomal recesive inheritance of Nager acrofacial dysostosis. OMIM 154400 Acrofacialdysostosis 1, Nager type; AFD 1 http//www.ncbi.nlm.nih.gov/htbinpost/Omim/dispmim?606847.

  5. Müller U. Craniofacial abnormalities. OMIM 606847 TCOF1 gene map http//www.ncbi.nlm.nih.gov/htbinpost/Omim/dispmim606847.

  6. Palomeque A, Pastor X, Ballesta F. Nager anomaly with severe facial involvement, microcephaly, and mental retardation. Am J Med Genet 1990:36:356-357.

  7. Opitz JM, Lacombe D. Acrofacial dysostosis 1, Nager Type http://orpha.net/data/patho/GB/uk-nager.pdf May 2003.

  8. Thapa R, Pramanik S, Mukhopadhyay M, Ghosh A. Nager acrofacial dysostosis. An unusual association with both upper and lower eyelid colobomas. Indian J Pediatr 2006;73:361-362.

  9. Mc Donald MT, Goroski JL. Nager acrofacial dysostosis. Syndrome of the month. J Med Genet 1993;30:779-782.




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Rev Esp Med Quir. 2013;18