Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Sharma R, Luijkx T, et al. Nager syndrome. Reference article, Radiopaedia.org (Accessed on 26 Mar 2025) https://doi.org/10.53347/rID-14644
The Nager syndrome (also known as acrofacial dysostosis) is a rare congenital syndrome primarily characterised by facial and skeletal features
Recognised features include:
In addition there can also be tracheal and laryngeal anomalies
Genetics
There may be agenetic defect localised to chromosome 9q32. Most cases are thought to be sporadic. Occasional autosomal recessive and autosomal dominant forms have been described.
History and etymology
It was initially described by Nager and deReynier in 1948
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1. Nyberg DA, McGahan JP, Pretorius DH. Diagnostic imaging of fetal anomalies. Lippincott Williams & Wilkins. (2003) ISBN:0781732115. Read it at Google Books - Find it at Amazon
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2. Paladini D, Tartaglione A, Lamberti A et-al. Prenatal ultrasound diagnosis of Nager syndrome. Ultrasound Obstet Gynecol. 2003;21 (2): 195-7. doi:10.1002/uog.52 - Pubmed citation
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3. Friedman RA, Wood E, Pransky SM et-al. Nager acrofacial dysostosis: management of a difficult airway. Int. J. Pediatr. Otorhinolaryngol. 1996;35 (1): 69-72. Int. J. Pediatr. Otorhinolaryngol. (link) - Pubmed citation
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4. Danziger I, Brodsky L, Perry R et-al. Nager's acrofacial dysostosis. Case report and review of the literature. Int. J. Pediatr. Otorhinolaryngol. 1990;20 (3): 225-40. - Pubmed citation
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