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Page 1
Human facial dysostoses.
Wieczorek D. Wieczorek D. Clin Genet. 2013 Jun;83(6):499-510. doi: 10.1111/cge.12123. Epub 2013 Apr 8. Clin Genet. 2013. PMID: 23565775 Review.
The limb anomalies in the AFDs can be classified into pre-axial, post-axial, and others not fitting into the first two AFD types. Of the pre-axial types, Nager syndrome and of the post-axial types, Miller syndrome are the best-known disorders of their AFD subgroups. …
The limb anomalies in the AFDs can be classified into pre-axial, post-axial, and others not fitting into the first two AFD types. Of the pre …
Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.
Marszałek-Kruk BA, Myśliwiec A, Lipowicz A, Wolański W, Kulesa-Mrowiecka M, Dowgierd K. Marszałek-Kruk BA, et al. Genes (Basel). 2023 Dec 24;15(1):29. doi: 10.3390/genes15010029. Genes (Basel). 2023. PMID: 38254920 Free PMC article. Review.
The prevalence is very rare and the literature describes only about a hundred cases of Nager syndrome. There is evidence of autosomal dominant and autosomal recessive inheritance for Nager syndrome, suggesting genetic heterogeneity. ...In our study, we …
The prevalence is very rare and the literature describes only about a hundred cases of Nager syndrome. There is evidence of au …
Microtia and Related Facial Anomalies.
Hartzell LD, Chinnadurai S. Hartzell LD, et al. Clin Perinatol. 2018 Dec;45(4):679-697. doi: 10.1016/j.clp.2018.07.007. Epub 2018 Sep 18. Clin Perinatol. 2018. PMID: 30396412 Review.
Nager syndrome and Pierre Robin sequence.
Rosa RF, Guimarães VB, Beltrão LA, Trombetta JS, Lliguin KL, de Mattos VF, Zen PR. Rosa RF, et al. Pediatr Int. 2015 Apr;57(2):e69-72. doi: 10.1111/ped.12562. Epub 2015 Mar 25. Pediatr Int. 2015. PMID: 25808856 Review.
Nager syndrome is considered a rare genetic syndrome characterized by craniofacial and radial anomalies. ...In the literature review, we identified the clinical description of 44 patients with Nager syndrome. Among them, 93.1% had micrognathia, 38.6% c …
Nager syndrome is considered a rare genetic syndrome characterized by craniofacial and radial anomalies. ...In the literature …
The Craniofacial and Upper Limb Management of Nager Syndrome.
Chummun S, McLean NR, Anderson PJ, Nieuwenhoven Cv, Mathijssen I, David DJ. Chummun S, et al. J Craniofac Surg. 2016 Jun;27(4):932-7. doi: 10.1097/SCS.0000000000002626. J Craniofac Surg. 2016. PMID: 27171953
INTRODUCTION: Nager syndrome is a rare condition characterized by craniofacial and upper limb abnormalities. ...However, patients with Treacher Collins do not exhibit hand anomalies, which are seen in patients with Nager syndrome. This paper reviews th …
INTRODUCTION: Nager syndrome is a rare condition characterized by craniofacial and upper limb abnormalities. ...However, patie …
Associated syndromes in patients with Pierre Robin Sequence.
Karempelis P, Hagen M, Morrell N, Roby BB. Karempelis P, et al. Int J Pediatr Otorhinolaryngol. 2020 Apr;131:109842. doi: 10.1016/j.ijporl.2019.109842. Epub 2019 Dec 30. Int J Pediatr Otorhinolaryngol. 2020. PMID: 31927149
Additionally, 3 patients had central hypoventilation syndrome, 3 patients had Duane syndrome, 2 patients had Cornelia de Lange syndrome, 2 patients had Emanuel syndrome, 2 patients had Gordon syndrome, 2 patients had Mobius syndrome, 2 patients had Nager syndrome. M …
Additionally, 3 patients had central hypoventilation syndrome, 3 patients had Duane syndrome, 2 patients had Cornelia de Lange syndrome, 2 p …
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.
Petit F, Escande F, Jourdain AS, Porchet N, Amiel J, Doray B, Delrue MA, Flori E, Kim CA, Marlin S, Robertson SP, Manouvrier-Hanu S, Holder-Espinasse M. Petit F, et al. Clin Genet. 2014 Sep;86(3):246-51. doi: 10.1111/cge.12259. Epub 2013 Sep 12. Clin Genet. 2014. PMID: 24003905
Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. ...We performed SF3B4 sequencing in 14 families (18 patients) whose features were suggestive of Nager syndrome …
Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and l …
Alloplastic Temporomandibular Joint Reconstruction in Congenital Craniofacial Deformities.
Hodzic Z, Törnwall J, Leikola J, Heliövaara A, Suojanen J. Hodzic Z, et al. J Craniofac Surg. 2021 Sep 1;32(6):e548-e551. doi: 10.1097/SCS.0000000000007533. J Craniofac Surg. 2021. PMID: 34081423
Temporomandibular joints affecting syndromes were Goldenhar syndrome, hemifacial macrosomia, Nager syndrome, and Treacher-Collins syndrome. The majority of the patients have had several previous operative treatments on the facial skeleton during their childhood, whi …
Temporomandibular joints affecting syndromes were Goldenhar syndrome, hemifacial macrosomia, Nager syndrome, and Treacher-Coll …
A Case Report of Absent Epiglottis in Children With Nager Syndrome: Its Impact on Swallowing.
Tay SY, Loh WS, Lim TC. Tay SY, et al. Cleft Palate Craniofac J. 2017 Nov;54(6):754-757. doi: 10.1597/15-315. Epub 2016 Oct 10. Cleft Palate Craniofac J. 2017. PMID: 27723379 Review.
OBJECTIVE: This clinical report is the first literature report exploring the issues of an absent epiglottis in children diagnosed with Nager syndrome. Absent epiglottis has previously been described in children with Pierre Robin sequence and other syndromes. ...
OBJECTIVE: This clinical report is the first literature report exploring the issues of an absent epiglottis in children diagnosed with Na …
32 results