Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)

American Journal of Medical Genetics, Part A

Volumn 140, Issue 14, 2006, Pages 1573-1579

  Castori, Marco ^a,b   Brancati, Francesco ^a,b   Rinaldi, Rosanna ^b   Adami, Loredana ^c   Mingarelli, Rita ^a   Grammatico, Paola ^b   Dallapiccola, Bruno ^a,b  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c SAN CAMILLO FORLANINI HOSPITAL   (Italy)

Author keywords

Goldenhar syndrome; Hemifacial microsomia; Prenatal diagnosis; Ultrasound

Indexed keywords

AMNION FLUID; ARTICLE; AUTOPSY; CASE REPORT; CENTRAL NERVOUS SYSTEM MALFORMATION; CLINICAL FEATURE; CONGENITAL HEART DISEASE; DISEASE SEVERITY; FACE MALFORMATION; FETUS; FETUS ECHOGRAPHY; GESTATIONAL AGE; GOLDENHAR SYNDROME; HUMAN; HUMAN CELL; HYDROCEPHALUS; HYDROURETER; KIDNEY AGENESIS; LUNG AGENESIS; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRENATAL DIAGNOSIS; PRENATAL PERIOD; PRIORITY JOURNAL; PROGNOSIS; RADIUS APLASIA;

ADULT; AMNIOTIC FLUID; BONE AND BONES; CENTRAL NERVOUS SYSTEM; FACIAL BONES; FEMALE; GESTATIONAL AGE; GOLDENHAR SYNDROME; HEART DEFECTS, CONGENITAL; HUMANS; MALE; PHENOTYPE; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 33745601147     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31290     Document Type: Article

References (29)

1. Aubry MC, Aubry JP, Dommergues M. 2003. Sonographic prenatal diagnosis of central nervous system abnormalities. Childs Nerv Syst 19:391-402.
2. Benacerraf BR, Frigoletto FD Jr. 1988. Prenatal ultrasonographic recognition of Goldenhar's syndrome. Am J Obstet Gynecol 159:950-952.
3. Bergmann C, Zerres K, Peschgens T, Senderek J, Hornchen H, Rudnik-Schoneborn S. 2003. Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC). Am J Med Genet Part A 121A:151-155.
4. Bianchi D, Crombleholme TM, D'Alton ME. 2000. Fetology: Diagnosis and management of the fetal patient. USA: McGraw-Hill.
5. Cohen MM Jr. 1971. Variability versus "incidental findings" in the first and second branchial arch syndrome: Unilateral variants with anophthalmia. Birth Defects Orig Artic Ser 7:103-108.
6. Cohen MM Jr, Rollnick BR, Kaye CI. 1989. Oculoauriculovertebral spectrum: An updated critique. Cleft Palate J 26:276-286.
7. De Catte L, Laubach M, Legein J, Goossens A. 1996. Early prenatal diagnosis of oculoauriculovertebral dysplasia or the Goldenhar syndrome. Ultrasound Obstet Gynecol 8:422-424.
8. Dillon E, Renwick M, Wright C. 2000. Congenital diaphragmatic herniation: Antenatal detection and outcome. Br J Radiol 73:360-365.
9. Gorlin RJ, 2005. Oculo-auriculo-vertebral spectrum. In: Cassidy SB, Allanson JE, editors. Management of genetic syndromes, 2nd edition. USA: Wiley-Liss. p 399-406.
10. Gorlin RJ, Cohen MM Jr, Hennekam RCM. 2001. Syndromes of the head and neck, 4th edition. New York: Oxford University Press.
11. Haldar A, Sharma AK, Phadke SR, Jain A, Agarwal SS. 1994. OEIS complex with craniofacial anomalies-defect of blastogenesis? Am J Med Genet 53:21-23.
12. Hattori Y, Tanaka M, Matsumoto T, Uehara K, Ueno K, Miwegishi K, Ishimoto H, Miyakoshi K, Yoshimura Y. 2005. Prenatal diagnosis of hemifacial microsomia by magnetic resonance imaging. J Perinat Med 33:69-71.
13. Ignacio Rodriguez J, Palacios J, Lapunzina P. 1993. Severe axial anomalies in the oculo-auriculo-vertebral (Goldenhar) complex. Am J Med Genet 47:69-74.
14. Jeanty P, Zaleski W, Fleischer AC. 1991. Prenatal sonographic diagnosis of lipoma of the corpus callosum in a fetus with Goldenhar syndrome. Am J Perinatol 8:89-90.
15. Kita D, Munemoto S, Ueno Y, Fukuda A. 2002. Goldenhar's syndrome associated with occipital meningoencephalocele-case report. Neurol Med Chir (Tokyo) 42:354-355.
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. Martinelli P, Maruotti GM, Agangi A, Mazzarelli LL, Bifulco G, Paladini D. 2004. Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum. Ultrasound Obstet Gynecol 24:199-201.
18. Maymon R, Schneider D, Hegesh J. Herman A, Weinraub Z, Achiron R. 2001. Antenatal sonographic findings of right pulmonary agenesis with ipsilateral microtia: A possible new laterality association. Prenat Diagn 21:125-128.
19. Mettey R, Masson G, Peyre MP, Hoppeler A. 1987. Hydrocephalus and the Goldenhar syndrome. J Genet Hum 35:275-277.
20. Milani D, Selicorni A. 2002. Right pulmonary agenesis with ipsilateral microtia: A new laterality association or part of the oculoauriculovertebral spectrum? Prenat Diagn 22:1053-1054.
21. Opitz JM, Zanni G. Reynolds JF Jr, Gilbert-Barness E. 2002. Defects of blastogenesis. Am J Med Genet 115:209-286.
22. Rollnick BR, Kaye CI. 1983. Hemifacial microsomia and variants: Pedigree data. Am J Med Genet 15:233-253.
23. 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.
24. Schrander-Stumpel CT, de Die-Smulders CE, Hennekam RC, Fryns JP, Bouckaert PX, Brouwer OF, da Costa JJ, Lommen EJ, Maaswinkel-Mooy PD. 1992. Oculoauriculovertebral spectrum and cerebral anomalies. J Med Genet 29:326-331.
25. Stoll C, Viville B, Treisser A, Gasser B. 1998. A family with dominant oculoauriculovertebral spectrum. Am J Med Genet 78:345-349.
26. Tamas DE, Mahony BS, Bowie JD, Woodruff WW 3rd, Kay HH. 1986. Prenatal sonographic diagnosis of hemifacial microsomia (Goldenhar-Gorlin syndrome). J Ultrasound Med 5:461-463.
27. Volpe P, Gentile M. 2004. Three-dimensional diagnosis of Goldenhar syndrome. Ultrasound Obstet Gynecol 24:798-800.
28. Witters I, Schreurs J, Van Wing J, Wouters W, Fryns JP. 2001. Prenatal diagnosis of facial clefting as part of the oculo-auriculo-vertebral spectrum. Prenat Diagn 21:62-64.
29. Zelante L, Gasparini P, Castriota Scanderbeg A, Dimitri L, Criconia M, Gorlin RJ. 1997. Goldenhar complex: A further case with uncommon associated anomalies. Am J Med Genet 69:418-421.