Oculoauriculovertebral spectrum with radial defects: A new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature

European Journal of Human Genetics

Volumn 15, Issue 4, 2007, Pages 411-421

  Vendramini, Siulan ^a   Richieri Costa, Antonio ^a   Guion Almeida, Maria Leine ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ACOUSTIC REFLEX; ADOLESCENT; ADULT; ARM MALFORMATION; ARTICLE; BONE SCINTISCANNING; BRAZIL; CHILD; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINITY; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; EVOKED BRAIN STEM RESPONSE; FAMILIAL DISEASE; FEMALE; GENETIC VARIABILITY; GOLDENHAR SYNDROME; HUMAN; MALE; MATERNAL DIABETES MELLITUS; PATHOPHYSIOLOGY; PHENOTYPE; PRENATAL DRUG EXPOSURE; PRIORITY JOURNAL; RADIUS; RISK ASSESSMENT; RISK FACTOR; SPEECH AUDIOMETRY; TYMPANOMETRY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BRAZIL; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; EAR, EXTERNAL; EYE ABNORMALITIES; FACIAL ASYMMETRY; FEMALE; GOLDENHAR SYNDROME; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MALE; PEDIGREE; PREGNANCY; SPINE; UPPER EXTREMITY DEFORMITIES, CONGENITAL;

EID: 33947696182     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201770     Document Type: Article

References (43)

1. Gorlin RJ, Cohen Jr MM, Hennekam RCM: Syndromes of the Head and Neck, 4th edn, Oxford university press: New York, 2001.
2. Cohen Jr MM, Rollnick BR, KAye CI: Oculoauriculovertebral spectrum: an updated critique. Cleft Palate J 1989; 26: 276-286.
3. Wilson GN: Cranial defects in the Goldenhar syndrome. Am J Med Genet 1983; 14: 435-443.
4. van den Ende JJ, van Bever Y, Richieri-Costa A: The OAV-spectrum and associated anomalies in 77 patients. Rev Bras Genet 1993; 16: 811-817.
5. Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO: Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients. Am J Med Genet 1987; 26: 361-375.
6. Sugiura Y: Congenital absence of the radius with hemifacial microsomia, ventricular septal defect and crossed renal ectopia. Birth Defects Orig Artic Ser 1971; 7: 109-116.
7. Moeschler J, Clarren SK: Familial occurrence of hemifacial microsomia with radial limb defects. Am J Med Genet 1982; 12: 371-375.
8. Oner N, Basaran ON, Yalcin O, Vatansever U, Acunas B: A newborn infant with left diaphragm agenesis, radial aplasia and preauricular appendices. Clin Dysmorphol 2004; 13: 59-60.
9. Essen-Moller E in: Harding AE, Hall CM, Baraitser M: Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies and conductive hearing loss (facioauriculoradial dysplasia). J Med Genet 1982; 19: 110-115.
10. Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.
11. Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E: Oculoauriculo-vertebral dysplasia. J Pediatr 1963; 63: 991-999.
12. Mandelcorn MS, Merin S, Cardarelli J: Goldenhar's syndrome and phocomelia Case report and etiologic considerations. Am J Ophthalmol 1971; 72: 618-621.
13. Bowen DI, Collum LM, Rees DO: Clinical aspects of oculo-auriculo-vertebral dysplasia. Br J Ophthalmol 1971; 55: 145-154.
14. Hodes ME, Gleiser S, DeRosa GP et al: Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia. J Craniofac Genet Dev Biol 1981; 1: 49-55.
15. Wilson GN, BarrAJr M: Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar syndrome. J Craniofac Genet Dev Biol 1983; 3: 313-316.
16. Lessick M, Vasa R, Israel J: Severe manifestations of oculoauriculovertebral spectrum in a cocaine exposed infant. J Med Genet 1991; 28: 803-804.
17. van Bever Y, van den Ende JJ, Richieri-Costa A: Oculo-auriculovertebral complex and uncommon associated anomalies: Report on 8 unrelated Brazilian patients. Am J Med Genet 1992; 44: 683-690.
18. Gibson JN, Sillence DO, Taylor TK: Abnormalities of the spine in Goldenhar's syndrome. J Pediatr Orthop 1996; 16: 344-349.
19. Johnson JP, Poskanzer LS, Sherman S: Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/ oculoauriculovertebral spectrum. Am J Med Genet 1996; 61: 134-139.
20. Zelante L, Gasparini P, Castriota Scanderbeg A, Dimitri L, Criconia M, Gorlin RJ: GoAdenhar complex: a further case with uncommon associated anomalies. Am J Med Genet 1997; 69: 418-421.
21. Ewart-Toland A, Yankowitz J, Winder A et al: Oculoauriculovertebral abnormalities in children of diabetic mothers. Am J Med Genet 2000; 90: 303-309.
22. Miura M, Sando I, Takasaki K, Haginomori S, Hirsch BE: Histopathologic study of temporal bone and eustachian tube in oculoauriculovertebral spectrum. Ann Otol Rhinol Laryngol 2001; 110: 922-927.
23. Wang R, Martinez-Frias ML, Graham Jr JM: Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach. J Pediatr 2002; 141: 611-617.
24. Pane M, Baranello G, Battaglia D et al: Severe abnormalities of the pons in two infants with Goldenhar syndrome. Neuropediatrics 2004; 35: 234-238.
25. Castori M, Brancati F, Rinaldi R et al: Antenatal presentation of the Óculo-Auriculo-Vertebral Spectrum (OAVS). Am J Med Genet 2006; 140A: 1573-1579.
26. Kokavec R: Goldenhar syndrome with various clinical manifestations. Cleft Craniofac J 2006; 43: 628-634.
27. Meurman Y: Congenital microtia and meatal atresia. AMA Arch Otolatyng 1957; 66: 443-463.
28. Tessier P: Anatomical classification of facial, cranio-facial and laterofacial clefts. J Max-Fac Surg 1976; 4: 69-92.
29. Katz J: Handbook of Clinical Audiology, 4th edn, Williams & Wilkins Co.: Baltimore, 1994.
30. Poswillo D: The pathogenesis of the first and second branchial arch syndrome. Oral Surg Oral Med Oral Pathol 1973; 35: 302-328.
31. Salvado A, Rodriguez K, Guarisco JL: Hemifacial microsomia. J La State Med Soc 2003; 155: 136-141.
32. Opitz JM Faith GC: Visceral anomalies in a infant with the Goldenhar syndrome. Birth Defects Orig Artic Ser 1969; 5: 104-105.
33. Opitz JM, Utkus A: Comments on biological asymmetry. Am J Med Genet 2001; 101: 359-369.
34. Bisdas S, Lenarz M, Lenarz T, Becker H: Inner ear abnormalities in patients with Goldenhar syndrome. Otol Neurotol 2005; 26: 398-404.
35. Calzolari F, Garani G, Sensi A, Martini A: Clinical and radiological evaluation in children with microtia. Br J Audiol 1999; 33: 303-312.
36. Rollnick BR, Kaye CI: HemifaciPl microsomia and variants: pedigree data. Am J Med Genet 1983; 15: 233-253.
37. Tasse C, Bohringer S, Fisher S et al: Oculo-auriculo-vertebral spectrum (OAVS): Clinical evaluation and scoring of 53 patients and proposal for a new classification. Eur J Med Genet 2005; 48: 397-411.
38. Johnson JP, Poskanzer LS, Sherman S: Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/ oculoauriculovertebral spectrum. Am J Med Genet 1996; 61: 134-139.
39. Kohlhase J, Taschner P, Burfeind P et al: Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Am J Hum Genet 1999; 64: 435-445.
40. Keegan CE, Mulliken JB, Wu BL, Korf BR: Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: Review of eight patients and further evidence of a 'hot spot' for mutation in the SALL1 gene. Genet Med 2001; 3: 310-313.
41. Albrecht B, Liebers M, Kohlhase J: Atypical phenotype and intrafamiliar variability associated with a novel SALL1 mutation (Letter). Am J Med Genet 2004; 125A: 102-104.
42. Terhal P, Rosler B, Kohlsase J: A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a Novel SALL4 mutation. Am J Med Genet 2006; 140A: 222-226.
43. Nazer-Herrera J, Garcia-Huidobro M, Cifuentes-Ovalle L: Congenital malformations among offspring of diabetic women. Rev Med Chil 2005; 133: 547-554.