Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum

Ultrasound in Obstetrics and Gynecology

Volumn 24, Issue 2, 2004, Pages 199-201

  Martinelli, P ^a   Maruotti, G M ^a   Agangi, A ^a   Mazzarelli, L L ^a   Bifulco, G ^a   Paladini, D ^a,b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b NONE   (Italy)

Author keywords

Goldenhar syndrome; Hemifacial macrosomia; Oculoauriculovertebral spectrum; Prenatal diagnosis

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CEREBELLUM HYPOPLASIA; CLEFT FACE; CRANIOFACIAL DEVELOPMENT; EAR; ECHOGRAPHY; FEMALE; GESTATIONAL AGE; GOLDENHAR SYNDROME; HEMIFACIAL MICROSOMIA; HUMAN; IMAGE DISPLAY; MANDIBLE; MICROPHTHALMIA; ORBIT; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY; SPINE MALFORMATION;

ADULT; CEREBELLUM; FACIAL ASYMMETRY; FEMALE; FETAL DISEASES; GOLDENHAR SYNDROME; HUMANS; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 4043123859     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1002/uog.1118     Document Type: Article

References (22)

1. De Catte L, Laubach M, Legein J, Goossens A. Early prenatal diagnosis of oculoauriculovertebral dysplasia or the Goldenhar syndrome. Ultrasound Obstet Gynecol 1996; 8: 422-423.
2. Grabb WC. The first and second branchial arch syndrome. Plast Reconstr Surg 1965; 36: 485-508.
3. Rollnick BR, Kaye CI. Oculo-auriculo-vertebral anomaly. In Recognizable Patterns of Human Malformation: Genetic, Embryologic and Clinical Aspects (3rd edn), Smith DW (ed.). W. B. Saunders: Philadelphia, PA, 1982; 1272-1274.
4. Witters I, Schreurs J, Van Wing J, Wouters W, Fryns JP. Prenatal diagnosis of facial clefting as part of the oculo-auriculovertebral spectrum. Prenat Diagn 2001; 21: 62-64.
5. Burck U. Genetic aspects of hemifacial microsomia. Hum Genet 1983; 64: 291-296.
6. Regenbogen L, Godel V, Goya V, Goodman RM. Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia. Clin Genet 1982; 21: 161-167.
7. Stoll C, Viville B, Treisser A, Gasser B. A family with dominant oculoauriculovertebral spectrum. Am J Med Genet 1998; 78: 345-349.
8. Tamas DE, Mahony BS, Bowie JD, Woodruff WW III, Kay HH. Prenatal sonographic diagnosis of hemifacial microsomia (Goldenhar-Gorlin syndrome). J Ultrasound Med 1986; 5: 461-463.
9. Benacerraf BR, Frigoletto FD. Prenatal ultrasonographic recognition of Goldenhar syndrome. Am J Obstet Gynecol 1988; 159: 950-952.
10. Goldenhar M. Associations malformatives de l'oeil et de l'oreille, en particulier le syndrome epibulbaire-appendices auriculaires dermoide fistula auris congenita et ses relations avec la dysostose mandibulo faciale. J Genet Hum 1952; 1: 243-282.
11. Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E. Oculoauriculovertebral dysplasia. J Pediatr 1963; 63: 991-999.
12. Gorlin RJ, Cohen MM, Levin LS. Syndromes of the Head and Neck. Oxford University Press: New York, NY, 1990; 641-649, 707-708.
13. Hess OM, Steurer J, Goebel NH, Kuhlmann U, Krayenbuhl HP. Goldenhar syndrome. Schweiz Med Wochenschr 1979; 109: 19-23.
14. Ryan CA, Finer NN, Ives E. Discordance of sign in monozygotic twins concordant for the Goldenhar anomaly. Am J Med Genet 1988; 29: 755-761.
15. Nyberg DA, Jeanty P, Glass I. Syndrome and multiple anomaly conditions. In Diagnostic Imaging of Fetal Anomalies, Nyberg DA, McGahan JP, Pretorius DH, Pilu G. Lippincott Williams & Wilkins: Philadelphia, PA, 2003; 153-155.
16. Kumar A, Friedman JM, Taylor GP, Patterson MW. Pattern of cardiac malformation in oculoauriculovertebral spectrum. Am J Med Genet 1993; 46: 423-426.
17. Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG). Linee Guida SIEOG (2002 Edition). Editeam Pub: Cento (FE), Italy, December 2002.
18. American College of Obstetricians and Gynecologists. Ultrasonography in Pregnancy (Technical Bulletin No. 187). American College of Obstetricians and Gynecologists: Washington, DC, 1993.
19. Schrander-Stumpel CTRM, de Die-Smulders CEM, Hannekam RCM, Fryns JP, Bouckaert PXJM, Brouwer OF, Da Costa JJ, Lommen EJP, Maaswinkel-Mooy PD. Oculoauriculovertebral spectrum and cerebral anomalies. J Med Genet 1992; 29: 326-331.
20. Kaufman R, Rimoin DL, Prensky AL, Sly WS. An oculocerebrofacial syndrome. Birth Defects Orig Art Ser 1971; 7: 135-138.
21. Paladini D, Tartaglione A, Lamberti A, Lapadula C, Martinelli P. Prenatal ultrasound diagnosis of Nager syndrome. Ultrasound Obstet Gynecol 2003; 21: 195-197.
22. Jeanty P, Zalesky W, Fleischer AC. Prenatal sonographic diagnosis of lipoma of the corpus callosum in a fetus with Goldenhar syndrome. Am J Perinatol 1991; 8: 89-90.