The oculoauriculovertebral spectrum or Goldenhar syndrome is characterized by varying degrees of prevalently unilateral underdevelopment of the craniofacial structures (orbit, ear, and mandible) in association with vertebral, cardiac, renal, and central nervous system defects. We report on a term neonate with a partial monosomy 7q21.11 with marked hemifacial microsomia, facial clefting, and spinal anomaly. The estimated size of the monosomic region of 7q21.11 was approximately 55 kilobases. This is the first report of a patient with partial monosomy 7q21.11 associated with oculoauriculovertebral spectrum.
CourtensW., VermeulenS., WuytsW., MessiaenL., WautersJ., NuytinckL., PetersN., StormK., SpelemanF., NothenM.M.An interstitial deletion of chromosome 7 at band q21: a case report and review.Am J Med Genet.2005; 134A: 12–23.
GorlinR.J., CohenM.M., HennekamR.C.Syndrome of the head and neck.4th ed.Oxford, UK: Oxford University Press;2001.
6.
HarveyA.S., LeaperP.M.CHARGE association: clinical manifestations and developmental outcome.Am J Med Genet.1991; 39: 48–55.
7.
HeikeC.L., LuquettiD.V., HingA.V.Craniofacial microsomia overview. In: PagonR.A., AdamM.P., ArdingerH.H., BirdT.D., DolanC.R., FongC.T., SmithR.J.H., StephensK., eds. Gene Reviews [Internet]. Seattle: University of Washington; 1993-2014. Available at http://www.ncbi.nlm.nih.gov/books/NBK5199/. Accessed December 1, 2014.
8.
IgnatiusJ., KnuutilaS., SchererS.W., TraskB., KereJ.Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.J Med Genet.1996; 33: 507–510.
9.
LalaniS.R., SafiullahA.M., MolinariL.M., FernbachS.D., MartinD.M., BelmontJ.W.SEMA3E mutation in a patient with CHARGE syndrome.J Med Genet.2004; 41: e94.
10.
MartinD.M., SheldonS., GorskiJ.L.CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).Am J Med Genet.2001; 99: 115–119.
11.
MartinelliP., MaruottiG.M., AgangiA., MazzarelliL.L., BifulcoG., PaladiniD.Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum.Ultrasound Obstet Gynecol.2004; 24: 199–201.
12.
Martinelli-JuniorH., MirandaR.T., FernandesC.M., BonanP.R.F., ParanaibaL.M.R., GranerE., ColettaR.D.Goldenhar syndrome: clinical features with orofacial emphasis.J Appl Oral Sci.2010; 18: 646–649.
13.
MiyazakiN., FuruyamaT., SakaiT., FujiokaS., MoriT., OhokaY., TakedaN., KuboT., InagakiS.Developmental localization of semaphorin H messenger RNA acting as a collapsing factor on sensory axons in the mouse brain.Neuroscience.1999; 93: 401–108.
14.
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.
15.
WeaverD.D., HoustonL.Dysblastogenesis-the formation of malformation during the first four weeks of development.Am J Hum Genet.1993; 53(suppl): 1063.
