First and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that encompass diverse, superimposed, and heterogeneous phenotypes within the so-called oculoauriculovertebral spectrum. Nine members of a Brazilian family presenting typical branchial arch involvement in association with external opthalmoplegia are reported.
Conclusion
Macrostomia or abnormal mouth contour, preauricular tags, and uni- or bilateral ptosis were present in association in several patients. To our knowledge, this is the first report on this type of autosomal dominant condition. Clinical and genetic aspects are discussed.
AleksicS., BudzilovichG., ChoyA., ReubenR., RandtC., FinegoldM., McCarthyJ., Converse, FeiginI.. Congenital ophthalmoplegia in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome): a clinico-pathologic study and review of the literature.Neurology.1976; 26: 638–644.
2.
BeckA.E., HudginsL., HoymeH.E.. Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?Am J Med Genet.2005; 134A: 359–362.
3.
BergmannC., ZerresK., PeschgensT., SenderekJ., HornchenH., Rudnik-Schone-bornS.. Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC).Am J Med Genet.2003; 121A: 151–155.
4.
BerkerN., AcarogluG., SoykanE.. Goldenhar's Syndrome (oculo-auriculo-vertebral dysplasia) with congenital facial nerve palsy.Yonsei Med J.2004; 45: 157–160.
5.
CarvalhoG.J., SongC.S., VargervikK., LalwaniA.K.. Auditory and facial nerve dysfunction in patients with hemifacial microsomia.Arch Otolaryngol Head Neck Surg.1999; 125: 209–212.
6.
DerbentM., YilmazZ., BaltaciV., SaygiliA., VaranB., TokelK.. Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects.Am J Med Genet A.2003; 116A: 129–135.
GorlinR.J., CohenM.M.Jr, HennekamR.C.M.. Syndrome of the Head and Neck.4th ed.New York: Oxford University Press;2001.
9.
GorlinR.J., CohenM.M.Jr, LevinL.S.. Syndrome of the Head and Neck.3rd ed.Oxford Monographs on Medical Genetics No. 19.New York: Oxford University Press;1990.
10.
Guion-AlmeidaM.L., Richieri-CostaA.. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?Clin Dysmorphol.1999; 8: 1–4.
11.
HaldarA., SharmaA.K., PhadkeS.R., JainA., AgarwalS.S.. OEIS complex with craniofacial anomalies—defect of blastogenesis?Am J Med Genet.1994; 53: 21–23.
12.
KallenK., RobertE., CastillaE.E., MastroiacovoP., KallenB.. Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS).Am J Med Genet.2004; 127A: 26–34.
13.
KelbermanD., TysonJ., ChandlerD.C., McInerneyA.M., SleeJ., AlbertD., AymatA., BotmaM., CalvertM., GoldblattJ., HaanE.A., LaingN.G., LimJ., MalcolmS., SingerS.L., WinterR.M., Bitner-GlindziczM.. Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome.Hum Genet.2001; 109: 638–645.
14.
KrauseV.H.. The syndrome of Goldenhar affecting two siblings.Acta Ophthalmol (Copenh).1970; 48: 494–499.
15.
LamC.H.. A theory on the embryogenesis of oculo-auriculo-vertebral (Goldenhar) syndrome.J Craniofac Surg.2000; 11: 547–552.
16.
LarsenW.J.. Human Embryology.New York: Churchill Livingstone;1993.
MoeschlerJ., ClarrenS.K.. Familial occurrence of hemifacial microsomia with radial limb defects.Am J Med Genet.1982; 12: 371–375.
19.
MusarellaM.A., YoungI.D.. A patient with median cleft face anomaly and bilateral Goldenhar anomaly.Am J Med Genet.1986; 2(suppl): 135–141.
20.
PaneM., BaranelloG., BattagliaD., DonvitoV., CarnevaleF., StefaniniM.C., GuzzettaF., MercuriE., BertiniE.. Severe abnormalities of the pons in two infants with goldenhar syndrome.Neuropediatrics.2004; 35: 234–238.
21.
PoswilloD.. The pathogenesis of the first and second branchial arch syndrome.Oral Surg Oral Med Oral Pathol Oral Radiol Endod.1973; 35: 302–329.
22.
RobinowM., ReynoldsJ.F., FitzgeraldJ., BryantJ.A.. Hemifacial microsomia, ipsilateral facial palsy, and malformed auricle in two families: an autosomal dominant malformation.Am J Med Genet.1986; 2(suppl): 129–133.
23.
RollnickB.R., KayeC.I.. Hemifacial microsomia and variants: pedigree data.Am J Med Genet.1983; 15: 233–253.
SingerS.L., HaanE., SleeJ., GoldblattJ.. Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports.Aust Dent J.1994; 39: 287–291.
26.
StanojevicM., StipoljevF., KoprcinaB., KurjakA.. Oculo-auriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9: coincidental findings or etiologic factor?J Craniofac Genet Dev Biol.2000; 20: 150–154.
27.
StollC., VivilleB., TreisserA., GasserB.. A family with dominant oculoauriculovertebral spectrum.Am J Med Genet.1998; 78: 345–349.
28.
TiabL., d'Alleves ManziV., BorruatF.X., MunierF., SchorderetD.. Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients.Ophthalmic Genet.2004; 25: 241–246.
29.
van BeverY., van den EndeJ.J., Richieri-CostaA.. Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients.Am J Med Genet.1992; 44: 683–690.
30.
Van MeterT.D., WeaverD.D.. Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism.Clin Dysmorphol.1996; 5: 187–196.
31.
VermaM.J., FaridiM.M.. Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome-a case report.Indian J Ophthalmol.1992; 40: 61–62.
32.
YamadaK., AndrewsC., ChanW.M., McKeownC.A., MagliA., de BerardinisT., LoewensteinA., LazarM., O'KeefeM., LetsonR., LondonA., RuttumM., MatsumotoN., SaitoN., MorrisL., Del MonteM., JohnsonR.H., UyamaE., HoutmanW.A., de VriesB., CarlowT.J., HartB.L., KrawieckiN., ShoffnerJ., VogelM.C., KatowitzJ., GoldsteinS.M., LevinA.V., SenerE.C., OzturkB.T., AkarsuA.N., BrodskyM.C., HanischF., CruseR.P., ZubcovA.A., RobbR.M., RoggenkaemperP., GottlobI., KowalL., BattuR., TraboulsiE.I., FranceschiniP., NewlinA., DemerJ.L., EngleE.C.. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).Nat Genet.2003; 35: 318–321.
33.
ZelanteL., GaspariniP., Castriota ScanderbegA., DimitriL., CriconiaM., GorlinR.J.. Goldenhar complex: a further case with uncommon associated anomalies.Am J Med Genet.1997; 69: 418–421.
