Femoral facial syndrome (FFS) is a rare condition which may present with hypoplasia or aplasia of the femora and unusual facies characterized by long philtrum, thin upper lip and micrognathia. We present the case of a ten-month old infant with FFS who had retroglossal obstruction and who was treated with a pre-epiglottic baton plate. The pre-epiglottic baton plate can be a simple, non-invasive and effective tool for the clinical management of syndromic patients with mild-to-moderate upper airway obstruction due to micrognathia.
ArolaMK. Tracheostomy and its complications. A retrospective study of 794 tracheostomized patients. Ann Chir Gynaecol. 1981;70(3):96-106.
2.
BreugemCCEvansKNPoetsCFSuriSPicardAFilipC, et al.Best practices for the diagnosis and evaluation of infants With robin sequence: a clinical consensus report. JAMA Pediatr. 2016;170(9):894-902.
3.
BuchenauWWenzelSBacherMMüller-HagedornSArandJPoetsCF. Functional treatment of airway obstruction and feeding problems in infants with Robin sequence. Arch Dis Child Fetal Neonatal Ed. 2017;102(2):F142-F1F6.
4.
BurnJWinterRMBaraitserMHallCMFixsenJ. The femoral hypoplasia-unusual facies syndrome. J Med Genet. 1984;21(5):331-340.
5.
CastroSPerazaEZapataM. Prenatal diagnosis of femoral-facial syndrome: case report: prenatal diagnosis of femoral-facial syndrome. J Clin Ultrasound. 2014;42(1):49-52.
DarouichSAmraouiJAmraouiN. Femoral-facial syndrome: report of 2 fetal cases. Radiol Case Rep. 2019;14(10):1276-1282.
8.
DauriaDMarshJL. Mandibular distraction osteogenesis for Pierre Robin sequence: what percentage of neonates need it?J Craniofac Surg. 2008;19(5):1237-1243.
9.
DiepGKEisemannBSFloresRL. Neonatal mandibular distraction osteogenesis in infants With pierre robin sequence. J Craniofac Surg. 2020;31(4):1137-1141.
10.
EvansKNSieKCHopperRAGlassRPHingAVCunninghamML. Robin sequence: from diagnosis to development of an effective management plan. Pediatrics. 2011;127(5):936-948.
11.
FigueroaAAGlupkerTJFitzMGBeGoleEA. Mandible, tongue, and airway in Pierre Robin sequence: a longitudinal cephalometric study. Cleft Palate Craniofac J. 1991;28(4):425-434.
12.
GillerotYFourneauCWillemsTVan MaldergemL. Lethal femoral-facial syndrome: a case with unusual manifestations. J Med Genet. 1997;34(6):518-519.
13.
GleiserSWeaverDDEscobarVNicholsGEscobedoM. Femoral hypoplasia-unusual facies syndrome, from another viewpoint. Eur J Pediatr. 1978;128(1):1-5.
HoACHWongRWKCheungTNgDKSiuKKFungSC. Orthodontic plate for management of obstructive sleep apnoea in infants with Pierre Robin sequence: experience and protocol in Hong Kong. J Orthod. 2019;46(4):367-373.
16.
JohnsonJPCareyJCGoochWM3rdPetersenJBeattieJF. Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers. J Pediatr. 1983;102(6):866-872.
17.
Lacarrubba-FloresMDJCarvalhoDRRibeiroEMMorenoCAEspositoACMarsonFAL, Loureiro T, Cavalcanti DP. Femoral-facial syndrome: a review of the literature and 14 additional patients including a monozygotic discordant twin pair. Am J Med Genet A. 2018;176(9):1917-1928.
LazebnikNManyA. The severity of polyhydramnios, estimated fetal weight and preterm delivery are independent risk factors for the presence of congenital malformations. Gynecol Obstet Invest. 1999;48(1):28-32.
20.
LealEMacías-GómezNRodríguezL, Mercado FM, Barros-Núñez P. Femoral–facial syndrome with malformations in the central nervous system. Clin Imaging. 2003;27(1):23-26.
21.
LinzAUrschitzMSBacherMBrockmannPEBuchenauWPoetsCF. Treatment of obstructive sleep apnea in infants with trisomy 21 using oral appliances. Cleft Palate Craniofac J. 2013;50(6):648-654.
22.
LordJBeightonP. The femoral hypoplasia-unusual facies syndrome: a genetic entity?Clin Genet. 1981;20(4):267-275.
23.
LuisinMChevreauJKleinCNaepelsPDemeerBMathieu-DramardM, Jedraszak G, Gondry-Jouet C, Gondry J, Dieux-Coeslier A, et al. Prenatal diagnosis of femoral facial syndrome: three case reports and literature review. Am J Med Genet A. 2017;173(11):2923-2946.
24.
NowaczykMJMHugginsMJFlemingAMohidePT. Femoral–facial syndrome: prenatal diagnosis and clinical features. Report of three cases. Am J Med Genet A. 2010;152A(8):2029-2033.
25.
PapoffPGuelfiGCicchettiRCarestaECozziDAMorettiC, Midulla F, Miano S, Cerasaro C, Cascone P. Outcomes after tongue–lip adhesion or mandibular distraction osteogenesis in infants with pierre robin sequence and severe airway obstruction. Int J Oral Maxillofac Surg. 2013;42(11):1418-1423.
26.
PauerH-UViereckVKraussVOsmersRKraussT. Incidence of fetal malformations in pregnancies complicated by oligo- and polyhydramnios. Arch Gynecol Obstet. 2003;268(1):52-56.
27.
PoetsCFMaasCBuchenauWArandJVierzigABraumannB, Müller-Hagedorn S. Multicenter study on the effectiveness of the pre-epiglottic baton plate for airway obstruction and feeding problems in robin sequence. Orphanet J Rare Dis. 2017;12(1):46.
28.
RobinowMSonekJButtinoLVeghteA. Femoral-facial syndrome--prenatal diagnosis--autosomal dominant inheritance. Am J Med Genet. 1995;57(3):397-399.
29.
SchaeferUMSongsterGXiangABerkowitzKBuchananTAKjosSL. Congenital malformations in offspring of women with hyperglycemia first detected during pregnancy. Am J Obstet Gynecol. 1997;177(5):1165-1171.
30.
SchmidtGHirschfelderAHeilandMMatuschekC. Customized Pre-epiglottic baton plate-A practical guide for successful, patient-specific, noninvasive treatment of neonates With robin sequence. Cleft Palate Craniofac J. 2020;58:1063-1069.
31.
SingerLTKercsmarCLegrisGOrlowskiJPHillBPDoershukC. Developmental sequelae of long-term infant tracheostomy. Dev Med Child Neurol. 1989;31(2):224-230.
32.
SpielmannMMarxSBarbiGFlöttmannRKehrer-SawatzkiHKönigR, Horn D, Mundlos S, Nader S, Borck G. Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. Am J Med Genet A. 2016:170a(5):1202-1207.
33.
ZhaoZReeceEA. New concepts in diabetic embryopathy. Clin Lab Med. 2013;33(2):207-233.