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.
Conclusion
The function of the epiglottis and its contribution to swallowing has always been debated. In this article and from our literature review, we felt that absent epiglottis possibly contributed to the aspiration risk and may partly explain the long-term feeding issues in these children despite corrective surgeries.
BowmanI.A.Historical perspective. In: MatthewO.P., ed. Function of Upper Airway. Vol. 35. New York: Marcel Dekker; 1980: 23.
5.
BurtonB.K., NadlerH.L.Nager acrofacial dysostosis: report of a case.J Pediatr.1997; 91: 84–86.
6.
ChemkeJ., MogilnerB.M., Ben-LitzhakI., ZurkowskiL., OphirD.Autosomal recessive inheritance of Nager acrofacial dysostosis.J Med Genet.1988; 25: 230–232.
7.
DanzigerI., BrodskyL., PerryR., NusbaumS., BernatJ., RobinsonL.Nager's acrofacial dysostosis: case report and review of the literature.Int J Pediatr Otorhinolaryngol.1990; 20: 225–240.
8.
DavisR.K., ShapshayS.M., StrongM.S., HyamsV.J.Transoral partial supraglottic resection using the CO2 laser.Laryngoscope.1983; 93: 429–432.
9.
EkbergO., SigurjonssonS.V.Movement of the epiglottis during deglutition. A cineradiographic study.Gastrointest Radiol.1982; 7: 101–107.
GorlinR.J., CohenM.M., LevinL.S.Syndromes of the Head and Neck.3rd ed.New York: Oxford; 1990: 649–652.
12.
HolingerP.H., JohnsonK.C., SchillerF.Congenital anomalies of the larynx.Ann Otol Rhinol Laryngol.1954; 63: 581–606.
13.
HongP., BrakeM.K., CavanaghJ.P., BezuhlyM., MagitA.E.Feeding and mandibular distraction osteogenesis in children with Pierre Robin sequence: a case series of functional outcomes.Int J Pediatr Otorhinolaryngol.2012; 76: 414–418.
14.
ImmkenL.L., HarrisL.F., MaliniS., ScottC.I.Jr. Brief clinical report: the Nager syndrome.Am J Med Genet.1987; 27: 965–969.
15.
KawiraE.L., WeaverD.D., BenderH.A.Acrofacial dysostosis with severe facial clefting and limb reduction.Am J Med Genet.1984; 17: 641–647.
16.
KnappC.H., Satin-HodgesA., ColeR.R.Laryngeal findings in short rib polydactyly syndrome: case report and embryological correlations.Laryngoscope.1990; 100: 579–582.
17.
KraussC.M., HassellL.A., GangD.L.Brief clinical report: anomalies in an infant with Nager acrofacial dysostosis.Am J Med Genet.1985; 21: 761–764.
18.
LiS.P., FangT.J., LeeS.W., LiH.Y.A rudimentary epiglottis associated with Pierre Robin sequence.Int J Oral Maxillofac Surg.2006; 35: 668–670.
19.
MeineckeP., HayekH.Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.J Med Genet.1990; 27: 200–202.
20.
MonasterioF.O., MolinaF., BerlangaF., LopezM.E., AhumadaH., TakenagaR.H., YsunzaA.Swallowing disorders in Pierre Robin sequence: its correction by distraction.J Craniofac Surg.2004; 15: 934–941.
21.
NagerF.R., de ReynierJ.P.Das gehororgan bei den angeborenen kopfmissbildungen.Pract Otorhinolaryngol.1948; 10: 1–128.
22.
O'RahillyR., TuckerJ.A.The early development of the larynx in staged human embryos.Ann Otol Rhinol Laryngol.1973; 82: 1–27.
23.
PfeifferR.A., StoessH.Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case.Am J Med Genet.1983; 15: 255–260.
24.
ReyesB.G., ArnoldJ.E., BrooksL.J.Congenital absence of the epiglottis and its potential role in obstructive sleep apnea.Int J Pediatr Otorhinolaryngol.1994; 30: 223–226.
25.
RizkH.G., NassarM., RohayemZ., RassiS.J.Hypoplastic epiglottis in a non-syndromic child: a rare anomaly with serious consequences.Int J Pediatr Otorhinolaryngol.2010; 74: 952–955.
26.
WagnerS.F., ColeJ.Nager syndrome with partial duplication of the long arm of chromosome 2.Am J Hum Genet.1979; 31: 116A.
