Summary
Three cases of oculoauriculovertebral dysplasia (OAV) with associated cardiac, pulmonary, and facial malformations are described. One patient had a rare condition: isolation of the left innominate artery. All 3 had pulmonary anomalies ranging from minor (incomplete lobulation) to major (hypoplasia of the left lung). When pulmonary hypoplasia occurs, it is usually on the same side of the body as the facial anomalies.
Forty-five reported cases of OAV with associated cardiac, vascular, and pulmonary abnormalities are reviewed. Tetralogy of Fallot and ventricular septal defect account for half of the cardiac malformations. In the remaining cases, a wide variety of cardiovascular malformations are present.
It is suggested that the facial malformations in OAV may result from a perfusion abnormality. An isolated left innominate artery (as in one of our cases) could produce abnormal vascular supply to the external carotid artery and the facial structures that it supplies.
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References
Abe K, Ishikawa N, Murakami Y: Goldenhar's syndrome associated with cardiac malformations.Helv Paediat Acta 30:57–60, 1975
Baum JL, Feingold M: Ocular aspects of Goldenhar's syndrome.Amer J Ophthal 75:250–257, 1973
Booth JB, Berry CL: Unilateral pulmonary agenesis.Arch Dis Child 42:361–374, 1967
Comas AP, Gonzalez AL: Congenital heart disease in Goldenhar syndrome.J Pediatr 86:989, 1975
Edwards JE: Anomalies of the aortic arch system.Birth Defects: Original Article Series 13(3):47–63, 1977
Emerit I, Vernant P: Syndrome de Goldenhar et malformation complexe du coeur. A propos d'une observation.Presse Med 74:507–510, 1966
Field CE: Pulmonary agenesis and hypoplasia.Arch Dis Child 21:61–75, 1946
Friedman S, Saraclar M: The high frequency of congenital heart disease in oculo-auriculo-vertebral dysplasia (Goldenhar's syndrome).J Pediatr 85:873–874, 1974
Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E: Oculoauriculovertebral dysplasia.J Pediatr 63:991–999, 1963
Greenwood RD, Rosenthal A, Sommer A, Wolff G, Craenen J: Cardiovascular malformations in oculoauriculovertebral dysplasia (Goldenhar syndrome).J Pediatr 85:816–818, 1974
Grollman JH, Henderson HS, Hall RJ: Right aortic arch with aberrant retroesophageal innominate artery: Angiographic diagnosis.Radiology 90:782–783, 1968
Gross W: Ein Fall von Agenesie der linken Lunge.Beitr path Anat 37:487–501, 1905
Hess OM, Steurer J, Goebel NH, Kuhlmann U, Krayenbühl HP: Goldenhar Syndrom.Schweiz Med Wschr 109:19–23, 1979
Jezequel C, Coutel Y: Deux observations de syndrome de Goldenhar.Ouest Med 24:667–673, 1971
Kenawi MM, Dickson JAS: Aplasia of the right lung and calcifying epithelioma in association with Goldenhar's syndrome.Postgrad Med J 52:312–315, 1976
Labrune B, Choulot JJ: Syndrome oculo-auriculo-vertebral. Syndrome de Goldenhar.Ann Pédiat 21:713–718, 1974
Mellor DH, Richardson JE, Douglas DM: Goldenhar's syndrome. Oculoauriculovertebral dysplasia.Arch Dis Child 48:537–541, 1973
Moller JH, Edwards JE: Interruption of the aortic arch. Anatomic patterns and associated malformations.Am J Roentgenol Radium Ther Nucl Med 95:557–572, 1965
Morand P, Chantepie A, Moraine C: Microsomies hemifaciales et malformations cardiques.Arch Mal Coeur 71:1154–1159, 1978
Opitz JM, Faith GC: Visceral anomalies in an infant with the Goldenhar syndrome.Birth Defects: Original Article Series 5 (2):104–105, 1969
Pool PE, Vogel HK, Blount SG Jr: Congenital unilateral absence of a pulmonary artery: The importance of flow in pulmonary hypertension.Am J Cardiol 10:706–732, 1962
Saraclar M, Friedman S: Congenital cardiac anomalies in Goldenhar's syndrome.Turk J Pediat 16:124–129, 1974
Shokeir MHK: The Goldenhar syndrome: A natural history.Birth Defects: Original Article Series 13(3):67–83, 1977
Smithells RW: Oculo-auriculo-vertebral syndrome (Goldenhar's syndrome).Develop Med Child Neurol 6:406–407, 1964
Wille-Jorgensen A: Dysostosis mandibulofacialis (Franceschetti) report of two typical cases.Acta Ophthal 40:348–357, 1962
Wu C, Balcon R, Kurtzman RS, Wendt VE: Absent left pulmonary artery, right-sided arch and patent ductus arteriosus with right-to-left shunt.Am J Cardiol 14:702–708, 1964
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This study was supported by Academic Research Training Grant 5 T32 HL07359 and Public Health Service Research Grant 5 R01 HL05694 from the National Heart, Lung, and Blood Institute.
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Pierpont, M.E.M., Moller, J.H., Gorlin, R.J. et al. Congenital cardiac, pulmonary, and vascular malformations in oculoauriculovertebral dysplasia. Pediatr Cardiol 2, 297–302 (1982). https://doi.org/10.1007/BF02426976
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DOI: https://doi.org/10.1007/BF02426976