Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

American Journal of Medical Genetics, Part A

Volumn 146, Issue 14, 2008, Pages 1815-1819

  Digilio, M Cristina ^a   Calzolari, Flaminia ^b   Capolino, Rossella ^a   Toscano, Alessandra ^a   Sarkozy, Anna ^b   De Zorzi, Andrea ^a   Dallapiccola, Bruno ^b   Marino, Bruno ^b  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Cardiovascular malformations; Congenital heart defect; Conotruncal heart defects; Facio auriculo vertebral spectrum; Goldenhar syndrome; Hemifacial microsomia; Oculo auriculo vertebral spectrum; Tetralogy of Fallot

Indexed keywords

ADOLESCENT; AORTA COARCTATION; ARTICLE; BRAIN MALFORMATION; CEREBELLUM HYPOPLASIA; CERVICAL SPINE; CHILD; CLEFT LIP PALATE; CLINICAL FEATURE; CONDUCTION DEAFNESS; CONGENITAL HEART MALFORMATION; CONOTRUNCAL HEART DEFECT; DEXTROCARDIA; DISEASE ASSOCIATION; DIZYGOTIC TWINS; FACE MALFORMATION; FALLOT TETRALOGY; FEMALE; GOLDENHAR SYNDROME; HEART ATRIUM SEPTUM DEFECT; HEART LEFT RIGHT SHUNT; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; HEMIFACIAL MICROSOMIA; HETEROTAXIA; HUMAN; HYDROCEPHALUS; INFANT; KIDNEY MALFORMATION; LUNG HYPOPLASIA; LUNG VEIN DRAINAGE ANOMALY; MAJOR CLINICAL STUDY; MALE; MANDIBLE HYPOPLASIA; MENTAL DEFICIENCY; MICROPHTHALMIA; MICROTIA; MONOZYGOTIC TWINS; PATENT DUCTUS ARTERIOSUS; PERCEPTION DEAFNESS; PREVALENCE; PRIORITY JOURNAL; PULMONARY VALVE ATRESIA; PULMONARY VALVE STENOSIS; REGISTER; SCIMITAR SYNDROME; SKELETON MALFORMATION; SPINE MALFORMATION; TERATOMA; TRICUSPID VALVE ATRESIA; TWIN PREGNANCY; VERTEBRA MALFORMATION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DISEASES IN TWINS; FEMALE; GOLDENHAR SYNDROME; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; INFANT; MALE; PHENOTYPE; PREGNANCY; TETRALOGY OF FALLOT; TWINS, DIZYGOTIC; TWINS, MONOZYGOTIC;

EMILIA;

EID: 48949118168     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32407     Document Type: Article

References (36)

1. Burck U. 1983. Genetic aspects of hemifacial microsomia. Hum Genet 64:291-296.
2. Bustamante LNP, de Guerra IV, Iwahashi ER, Ebaid M. 1989. Sindrome de Goldenhar, relato de cinco casos em associacao com malformacoes cardiacas. Arq Bras Cardiol 53:287-290.
3. Calzolari E, Garani G, Cocchi G, Magnani C, Rivieri F, Neville A, Astolfi G, Baroncini A, Garavelli L, Gualandi F, Scorrano M, Bosi G, Working Group IMER. 2003. Congenital heart defects: 15 years of experience of the Emilia-Romagna Registry (Italy). Eur J Epidemiol 18:773-780.
4. Clark EB. 1986. Mechanisms in the pathogenesis of congenital heart defects. In: Pierpont ME, Moller J, editors. The genetics of cardiovascular disease. Boston, MA: Martinus-Nijoff. p 3-11. Clark EB. 1996. Pathogenetic mechanism of congenital cardiovascular malformations revisited. Semin Perinatol 29:465-472.
5. Cousley RRJ. 1993- A comparison of two classification systems for hemifacial microsomia. Br J Oral Maxillofac Surg 31:78-82.
6. Ferraris S, Silengo M, Ponzone A, Perugini L. 1999. Goldenhar anomaly in one of triplets derived from in vitro fertilization. Am J Med Genet 84:167-168.
7. Friedman S, Saraclar M. 1974. The high frequency of congenital heart disease in oculo-auriculo-vertebral dysplasia (Goldenhar's syndrome). J Pediatr 85:873-874.
8. Goldenhar M. 1952. Associations malformatives de l'oeil et de l'oreille, en particulier le syndrome dermoide epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J Genet Hum 1:243-282.
9. Gorgu M, Asian G, Erdooan B, Karaca C, Akoz T. 1998. Goldenhar syndrome with situs inversus totalis. Int J Oral Maxillofac Surg 27:404.
10. Gorlin RJ, Cohen MM, Levin LS. 1990. Oculo-auriculo-vertebral spectrum (hemifacial microsomia, Goldenhar syndrome). In: Gorlin RJ, Cohen MM, Levin LS, editors. Syndromes of head and neck. 3rd edition. Oxford University Press: Oxford. p 641-649.
11. Grabb WC. 1965. The first and second branchial arch syndrome. Plast Reconstr Surg 36:485-508.
12. Greenwood RD, Rosenthal A, Sommer A, Wolff G, Craenen J. 1974. Cardiovascular malformations in oculoauriculovertebral dysplasia (Goldenhar syndrome). J Pediatr 85:816-818.
13. Hess OM, Steurer J, Goebel NH, Kuhlmann U, Krayenbuhl HP. 1979. Goldenhar syndrome. Schweiz Med Wochenschr 109:19-23.
14. Jongbloet PH. 1987. Goldenhar syndrome and overlapping dysplasias, in vitro fertilization and ovopathy. J Med Genet 24:616-620.
15. Kaban LB, Moses MH, Mulliken JB. 1988. Surgical correction of hemifacial microsomia. Plast Reconstr Surg 82:9-19.
16. Kumar A, Friedman JM, Taylor GP, Patterson MW. 1993. Pattern of cardiac malformation in oculoauriculovertebral spectrum. Am J Med Genet 46:423-426.
17. Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ, Braun JT, Curry CJ, Fernhoff PM, Grix AW, Lott IT, Richard JM, Sun SC. 1985. Retinoic acid embryopathy. N Engl J Med 313:837-841.
18. Lawson K, Waterhouse N, Gault DT, Calvert ML, Botma M, Ng R. 2002. Is hemifacial microsomia linked to multiple maternities. Br J Plast Surg 55:474-478.
19. Lin HJ, Owens TR, Sinow RM, Fu PC Jr, De Vito A, Beall MH, Lachman RS. 1998. Anomalous inferior and superior venae cavae with oculoauriculovertebral defect: Review of Goldenhar complex and malformations of left-right asymmetry. Am J Med Genet 75:88-94.
20. Maat-Kievit JA, Baraitser M, Winter RM. 1994. Total situs inversus associated with the oculo-auriculo-vertebral spectrum. Clin Dysmorphol 3:82-86.
21. McCarthy VP, Zimo DA, Lucas MA. 2001. Airway in the oculo-auriculo- vertebral spectrum: Two cases and review of the literature. Pediatr Pulmonol 32:250-256.
22. Melnick M. 1980. The etiology of external ear malformations and its relation to abnormalities of the middle ear, inner ear, and other organ systems. New York: Alan R. Liss Inc. for the National Foundation-March of Dimes. Birth Defects Orig Artic Ser XVI:303-331.
23. Morrison PJ, Mulholland HC, Craig BG, Nevin NC. 1992. Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet 44:425-428.
24. Nakajima H, Goto G, Tanaka N, Ashiyna H, Ibukiyama C. 1998. Goldenhar syndrome associated with various cardiovascular malformations. Jpn Circ J 62:617-620.
25. Pierpont MEM, Moller JH, Gorlin RJ, Edwards JE. 1982. Congenital cardiac, pulmonary and vascular malformations on oculoauriculovertebral dysplasia. Pediatr Cardiol 2:297-302.
26. Roesch C, Steinbicker V, Korb C, von Rohden L, Schmitt J. 2001. Goldenhar anomaly in one triplet derived from intracytoplasmatic sperm injecion (ICSI). Am J Med Genet 101:82-83.
27. Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO. 1987. Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients. Am J Med Genet 26:361-375.
28. Ryan CA, Finer NN, Ives E. 1988. Discordance of signs in monozygotic twins concordant for the Goldenhar anomaly. Am J Med Genet 29:755-761.
29. Schrander-Stumpel CTRM, DieSmulders CEM, Hennekam RCM, FrynsJ-P, Bouckaert PXJM, Brouwer OF, da Costa JJ, Lommen EJP, Maaswinkel-Mooy PD. 1992. Oculoauriculovertebral spectrum and cerebral anomalies. J Med Genet 29:326-331.
30. Setzer ES, Ruiz-Castaneda N, Severn C, Ryden S, Fryas JL. 1981. Etiologic heterogeneity in the oculoauriculovertebral syndrome. J Pediatr 98:88-90.
31. Shiono N, Takanashi Y, Yoshihara K, Tokuhiro K, Komatsu H, Matsuo N. 1990. A successful surgical repair of anomalous right pulmonary venous connection with Goldenhar syndrome. Nippon Kyobu Geka Gakkai Zasshi 38:135-139.
32. Shokeir MHK. 1977. The Goldenhar syndrome: A natural history. New York: Alan R. Liss, Inc. for the national Foundation-March of Dimes. Birth Defects Orig Artic Ser XIII:67-83.
33. Summitt RL. 1969. Familial Goldenhar syndrome. Birth Defects 5:106-111.
34. Thommen L, Bubl R, Fliegel CP. 1986. Lipoma of the corpus callosum as a constituent of Goldenhar syndrome. Monatsschr Kinderheilkd 134:541-543.
35. Vento AR, LaBrie RA, Mulliken JB. 1991. The O.M.E.N.S. classification of hemifacial microsomia. Cleft Palate J 28:68-76.
36. Werler MM, Sheehan JE, Hayes C, Padwa BL, Mitchell AA, Mulliken JB. 2004. Demographic and reproductive factors associated with hemifacial microsomia. Cleft Palate Craniofac J 41:494-499.