Goldenhar's Syndrome Associated with Multiple Congenital Abnormalities

Abstract

Goldenhar's syndrome is characterized by a combination of dermal epibulbar cysts, auricular appendices, malformation of ears, and vertebral anomalies. The average incidence ratio of Goldenhar's syndrome is estimated to be 1/5600, and the frequency of cardiovascular malformations of this syndrome is 5-58 per cent. Although the etiology of this disease is not fully understood, autosomal recessive or dominant inheritance is possible. The disease occurs as sporadic cases. Male:female ratio for the Goldenhar's syndrome is 2:1. A 72-day-old Goldenhar's syndrome case is reported who presented with multiple congenital anomalies.

Craniofacial abnormalities in goldenhar syndrome: a case report with review of the literature

“…[7] In the early 1990's, this condition was better understood and it was agreed that, this syndrome may exhibit a wide range of anomalies that includes eye anomalies, [7] disturbance of the central nervous system, cleft lip/cleft palate, [7] facial asymmetry, developmental dental disturbances, [12] skeletal anomalies, [7] mental retardation, [4,11,13] vertebral [14][15][16] and congenital heart anomalies, [17][18][19][20] growth abnormalities, [21] pulmonary abnormalities, [15] and labyrinthine, tracheoesophageal, [15] renal [15,16,22] and genitourinary abnormalities [ Table 1]. [17,20] Its estimated prevalence is 1-9/100,000, [13] with an incidence of 1 in 25,000-45,000 births, [28] with a male to female ratio of 3:2. [4] The study of this condition is still controversial because the symptoms and the physical features vary greatly in range and severity from case to case.…”

Posterior Fossa Dermoid Cyst in a Patient with Goldenhar Syndrome

“…Thereafter, Gorlin and Pindborg [6] included vertebral anomalies in these congenital malformations. Goldenhar syndrome comprises auricular deformities, vertebral anomalies and corneoscleral dermoids [1, 7, 8]. Other ocular anomalies described in this syndrome are coloboma of the upper eyelid, uvea, choroid, iris microphthalmia, microcornea and subconjunctival cysts.…”

Oral Rehabilitation of a Child with Goldenhar syndrome

“…Patients with this syndrome may exhibit a wide range of anomalies that includes eye anomalies (micropthalmos, coloboma, epibulbar dermoid and lipodermoid malformations); ear anomalies (microtia, atresia, ear appendices and fistulas); vertebral and congenital heart anomalies; cleft lip/cleft palate, facial asymmetry, developmental dental disturbances and mental retardation. 7,8 This present case report illustrates the oral rehabilitation of a child with Goldenhar syndrome (GS) with characteristic combination of external ear anomalies and ipsilateral facial underdevelopment which are the hallmark of this syndrome.…”