DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20192052

A rare case of Goldenhar syndrome: oculo-auriculo-vertebral spectrum

Pooja Pradeep, Nandhinee Umapathi, Jagadeeshwari S., Sundari S., D. Shylaja

Abstract


Franceschetti-Goldenhar syndrome or Goldenhar syndrome, also known as facio-auricular-spectrum (FAV), first and second branchial arch syndrome, or Oculo-Auriculo-Vertebral (OAV) spectrum is a rare congenital malformation which encompasses various morphological and functional abnormalities. The incidence of Goldenhar syndrome has been reported between 1:3500 to 1:5600 children, with a male: female ratio of 3:23. The incidence is higher, about 1 in 1000 children with congenital deafness. The exact etiology is not known. However, it is possible that abnormal embryonic vascular supply, disrupted mesodermal migration or some other factors leads to defective formation of the brachial and vertebral system. Most of the cases have been sporadic. Autosomal dominant, autosomal recessive and multifactorial modes of inheritance have also been suggested. Chromosomal studies have not revealed any abnormality. Authors report a case of a neonate with hemifacial microsomia, bilateral cleft lip and cleft palate, right deformed pinna, right facial palsy, single umbilical artery and congenital heart disease.


Keywords


Goldenhar syndrome, Hemifacial microsomia, Oculo- auriculo-vertebral spectrum

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References


Wackym PM, Rhee JS. Facial paralysis. In: Snow JB, Ballenger JJ, Ballenger's,eds. Otorhinolaryngology: Head and Neck Surgery. 6th ed. Hamilton,Ontario; BC Decker Inc. 2003:489.

Vendramini S, Richieri-Costa A, Guion-Almeida ML. 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 J Human Genet. 2007;15(4):411.

Jaiswal A, Annamalai T, Nirupama M, Ahmed SM, Ramya V. A variant of Goldenhar syndrome. Int J Contemp Pediat. 2017;4:1115-7.

Ashokan CS, Sreenivasan A, Saraswathy GK. Goldenhar syndrome-review with case series. JCDR. 2014;8(4):ZD17.

Mehta B, Nayak C, Savant S, Amladi S. Goldenhar syndrome with unusual features. Indian J Dermatol Venereol Leprol. 2008;74(3):254.

Pinheiro AL, Araújo LC, Oliveira SB, Sampaio MC, Freitas AC. Goldenhar's syndrome: case report. Brazil Dent J. 2003;14(1):67-0.

Tewfik TL, Alnoury KI. Manifestations of craniofacial syndromes‐Goldenhar syndrome. Available at: http://www.emedicine. com/ent/tTopic319.HTM.Access date:2008;27.

Tasse C, Majewski F, Böhringer S, Fischer S, Lüdecke HJ, Gillessen-Kaesbach G, et al. A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clinic Dysmorphol. 2007 1;16(1):1-7.

Goswami M, Bhushan U, Jangra B. Goldenhar Syndrome: A case report with review. Int J Clin Pediat Dent. 2016;9(3):278-80.

Bhuyan R, Pati AR, Bhuyan SK, Nayak BB. Goldenhar Syndrome: A rare case report. J Oral Maxillofac Pathol. 2016;20(2):328.

Ng YY, Hu JM, Su PH, Chen JY, Yang MS, Chen SJ. Goldenhar syndrome (oculoauriculovertebral dysplasia): report of one case. Acta Paediat Taiwan. 2006;47(3):142-5.

Touliatou V, Fryssira H, Mavrou A, Kanavakis E, Kitsiou-Tzeli S. Clinical manifestations in 17 Greek patients with Goldenhar syndrome. Genet Couns. 2006;17(3):359-70.

Gharehbaghi MM, Ghaemi MR. Goldenhar syndrome in an infant of diabetic mother. Iranian J Pediat. 2010;20(1):131.

Digilio MC, Calzolari F, Capolino R, Toscano A, Sarkozy A, De Zorzi A, et al. Congenital heart defects in patients with oculo‐auriculo‐vertebral spectrum (Goldenhar syndrome). Am J Med Genet Part A. 2008;146(14):1815-9.

Sprecher RC, Arnold JE. Upper airway lesions. In: Fanaroff AA, Martin RJ (eds). Neonatal‐Perinatal Medicine. Disease of the fetus and infant. 8th ed. Philadelphia; Mosby. 2006:1473‐8.