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R. Ward, P. Jamison, J. Allanson (2000)
Quantitative approach to identifying abnormal variation in the human face exemplified by a study of 278 individuals with five craniofacial syndromes.American journal of medical genetics, 91 1
Amanda Ewart-Toland, Jerome Yankowitz, Alison Winder, Robin Imagire, Victoria Cox, A. Aylsworth, Mahin Golabi (2000)
Oculoauriculovertebral abnormalities in children of diabetic mothers.American journal of medical genetics, 90 4
D. Juriloff, M. Harris, D. Mah (1994)
Mapping Far (First arch) in relation to molecular markers on mouse Chromosome 2Mammalian Genome, 5
I. Thomas, J. Frías (1987)
The heart in selected congenital malformations. A lesson in pathogenetic relationships.Annals of clinical and laboratory science, 17 4
David Poswillo, David Poswillo (1973)
The pathogenesis of the first and second branchial arch syndrome.Oral surgery, oral medicine, and oral pathology, 35 3
D. Juriloff, M. Harris (1991)
Mapping the mouse craniofacial mutation first arch (Far) to chromosome 2.The Journal of heredity, 82 5
Siracusa Siracusa, Abbott Abbott (1994)
Encyclopedia of the mouse genome V. Mouse chromosome 2Mamm Genome, 5 Spec. No.
R. Padmanabhan, S. Singh (1984)
Congenital anomalies of the ear resulting from cyclophosphamide treatment in the rat.Acta anatomica, 119 4
D. Poswillo, W. Hamilton, D. Sopher (1972)
The Marmoset as an Animal Model for Teratological ResearchNature, 239
B. Rollnick, C. Kaye, K. Nagatoshi, W. Hauck, Alice Martin (1987)
Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients.American journal of medical genetics, 26 2
E. Gustavson, H. Chen (1985)
Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure.Teratology, 32 1
Laura Russell, David Weaver, Marilyn Bull (1981)
The axial mesodermal dysplasia spectrum.Pediatrics, 67 2
Steve Charles, F. DiMario, M. Grunnet (1993)
Möbius sequence: further in vivo support for the subclavian artery supply disruption sequence.American journal of medical genetics, 47 2
C. Kaye, Alice Martin, B. Rollnick, K. Nagatoshi, J. Israel, M. Hermanoff, Brad Wopea, J. Richtsmeier, N. Morton, Antonio, Chicago, Maryland (1992)
Oculoauriculovertebral anomaly: segregation analysis.American journal of medical genetics, 43 6
T. Meter, D. Weaver (1996)
Oculo‐auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanismClinical Dysmorphology, 5
R. Cousley, D. Wilson (1992)
Hemifacial microsomia: developmental consequence of perturbation of the auriculofacial cartilage model?American journal of medical genetics, 42 4
R. Smithells, I. Leck (1963)
The incidence of limb and ear defects since the withdrawal of thalidomide.Lancet, 1 7290
Bergmann Bergmann, Zerres Zerres, Peschgens Peschgens, Senderek Senderek, Hornchen Hornchen, Rudnik‐Schoneborn Rudnik‐Schoneborn (2003)
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)Am J Hum Genet, 121A
Summitt Summitt (1969)
Familial Goldenhar syndromeBirth Defects, 5
R. Dreger, M. Harris, C. Peichel, T. Vogt, D. Juriloff (1995)
The first arch (Far) mutation in mice recombines with Hoxd and MdkMammalian Genome, 6
L. Regenbogen, V. Godel, V. Goya, R. Goodman (1982)
Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasiaClinical Genetics, 21
Michael Terry, J. Ascherman (2006)
A Case of Unilateral Coronal Synostosis in a Child with Craniofacial MicrosomiaThe Cleft Palate-Craniofacial Journal, 43
H. Naora, M. Kimura, H. Otani, M. Yokoyama, T. Koizumi, M. Katsuki, O. Tanaka (1994)
Transgenic mouse model of hemifacial microsomia: cloning and characterization of insertional mutation region on chromosome 10.Genomics, 23 3
M. Sheff (1950)
Morris Benjamin Brody.Lancet, 1 6615
Gorlin Gorlin, Jue Jue, Jacobsen Jacobsen, Goldschmidt Goldschmidt (1963)
Oculoauriculovertebral dysplasiaJ Pediatr, 63
B. Rollnick, C. Kaye, J. Opitz (1983)
Hemifacial microsomia and variants: pedigree data.American journal of medical genetics, 15 2
K. Källén, E. Robert, E. Castilla, P. Mastroiacovo, B. Källén (2004)
Relation between oculo‐auriculo‐vertebral (OAV) dysplasia and three other non‐random associations of malformations (VATER, CHARGE, and OEIS)American Journal of Medical Genetics Part A, 127A
Silbergleit Silbergleit, Quint Quint, Mehta Mehta, Patel Patel, Metes Metes, Noujaima Noujaima (2000)
The Persistent Stapedial ArteryAm J Neuroradiol, 21
M. Werler, J. Sheehan, A. Mitchell (2005)
Gulf War veterans and hemifacial microsomia.Birth defects research. Part A, Clinical and molecular teratology, 73 1
K. Jones, Marilyn Jones, M. Campo (1996)
Smith's Recognizable Patterns of Human Malformation
Lammer Ej, Chen Dt, Hoar Rm, Agnish Nd, Benke Pj, Braun Jt, Curry Cj, Fernhoff Pm, Grix Aw, Lott It (1985)
Retinoic acid embryopathy.The New England journal of medicine, 313 14
Otani Otani, Tanaka Tanaka, Naora Naora, Yokoyama Yokoyama, Nomura Nomura, Kimura Kimura (1991)
Microtia as an autosomal dominant mutation in a transgenic mouse line: a possible animal model of branchial arch anomaliesAnat Anz, 172
D. Kelberman, J. Tyson, D. Chandler, A. McInerney, J. Slee, D. Albert, A. Aymat, M. Botma, M. Calvert, J. Goldblatt, E. Haan, N. Laing, J. Lim, S. Malcolm, S. Singer, R. Winter, M. Bitner-Glindzicz (2001)
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndromeHuman Genetics, 109
D. Juriloff, M. Harris, U. Froster-Iskenius (1987)
Hemifacial deficiency induced by a shift in dominance of the mouse mutation far: a possible genetic model for hemifacial microsomia.Journal of craniofacial genetics and developmental biology, 7 1
R. Cousley, H. Naora, M. Yokoyama, M. Kimura, H. Otani (2002)
Validity of the Hfm transgenic mouse as a model for hemifacial microsomia.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 39 1
Goldenhar Goldenhar (1952)
Associations malformatives do I'oeil et de I'oreille, en particulier le syndrome dermöide epidbulbaire – appendices auricularies – fistula auris congenita et ses relations avec la dysostose mandibulo‐facialeJ Genet Hum, 1
Poswillo Poswillo (1975)
Hemorrhage in development of the faceBirth Defects, 11
M. Werler, J. Sheehan, C. Hayes, A. Mitchell, J. Mulliken (2004)
Vasoactive exposures, vascular events, and hemifacial microsomia.Birth defects research. Part A, Clinical and molecular teratology, 70 6
C. Bergmann, K. Zerres, T. Peschgens, J. Senderek, H. Hörnchen, S. Rudnik-Schöneborn (2003)
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)American Journal of Medical Genetics Part A, 121A
R. Silbergleit, D. Quint, B. Mehta, Suresh Patel, J. Metes, S. Noujaim (2000)
The persistent stapedial artery.AJNR. American journal of neuroradiology, 21 3
J. Bavinck, D. Weaver, J. Opitz, J. Reynolds (1986)
Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies.American journal of medical genetics, 23 4
M. Werler, J. Sheehan, C. Hayes, B. Padwa, A. Mitchell, J. Mulliken (2004)
Demographic and Reproductive Factors Associated with Hemifacial MicrosomiaThe Cleft Palate-Craniofacial Journal, 41
C. Stoll, B. Viville, A. Treisser, B. Gasser (1998)
A family with dominant oculoauriculovertebral spectrum.American journal of medical genetics, 78 4
C. Ryan, N. Finer, E. Ives (1988)
Discordance of signs in monozygotic twins concordant for the Goldenhar anomaly.American journal of medical genetics, 29 4
S. Singer, E. Haan, J. Slee, J. Goldblatt (1994)
Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports.Australian dental journal, 39 5
J. Spranger (1979)
Developmental terms—Some proposalsEuropean Journal of Pediatrics, 131
Melnick Melnick (1980)
The etiology of external ear malformations and its relation to abnormalities of the middle ear, inner ear, and other organ systemsBirth Defects, 16
D. Poswillo (1974)
Otomandibular deformity: pathogenesis as a guide to reconstruction.Journal of maxillofacial surgery, 2 2-3
W. Grabb (1965)
THE FIRST AND SECOND BRANCHIAL ARCH SYNDROMEPlastic and Reconstructive Surgery, 36
Structured Abstract Author – James K. Hartsfield Hemifacial microsomia is a congenital asymmetry of the lower face that may be associated with other cranial and extracranial anomalies. The variability of its severity, and wide range of anomalies that have been reported with it in some cases has resulted in these composite manifestations being given a number of names, including oculo‐auriculo‐vertebral spectrum (OAVS). Etiology is often stated to be a perturbation of embryonic blood flow in the developing region, although other factors may also play a role in some cases. Depending on what is considered to be minimum criteria for affected classification, what is often to be presumed to be a sporadic event in a family may be the more severe manifestation of a familial condition. Etiological factors are clearly heterogeneous, the investigation of which is confounded by not only the lack of a refined affected phenotype, but also the apparent influence of genetic factors in some instances that directly influence phenotype perhaps through alteration of mesodermal development, or indirectly through increased susceptibility to vascular disruption. Future studies likely to advance knowledge in this area will need to incorporate an analysis of who may be minimally affected in families, so that advances in genotyping will have greater power to distinguish genetic factors that may influence OVAS through interaction with environmental factors in particular families. The same genetic‐environmental factors and or etiological mechanisms may then be investigated in apparently sporadic cases.
Orthodontics & Craniofacial Research – Wiley
Published: Aug 1, 2007
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