Expanded Goldenhar Complex with Multiple Rare Syndromic Associations

Abstract

Goldenhar syndrome (GS) is the most severe form of the oculoauriculovertebral spectrum, a developmental disorder primarily involving the structures derived from the first and second branchial arches, intervening first pharyngeal pouch and branchial cleft characterized by microtia, facial asymmetry, ocular abnormalities, and abnormalities of the vertebral column. A multifactorial etiology involving genetic and environmental factors has been proposed and the majority of the cases are sporadic in occurrence. The clinical phenotype of GS is highly variable and multiple associated anomalies of various organ systems have been reported in the literature. The term “Expanded Goldenhar Complex” has been used when there are associated unusual extrafacial abnormalities involving major organ systems such as the central nervous system, cardiovascular system, and respiratory system. We report a case of Expanded Goldenhar Complex with multiple anomalies, some of which are very rarely reported associations. A 5-year-old boy presented with right-sided hemifacial microsomia, microtia, preauricular and malar skin tags, bilateral radial club hands, and scoliosis since birth. Imaging revealed additional abnormalities including aural atresia, unilateral pulmonary agenesis, dextrocardia, vertebral segmentation defects, left renal ectopia, and right undescended testis. Surgical corrections were undertaken for the right radial club hand and undescended testis and he is awaiting surgery for the left club hand. Complete imaging evaluation of children with dysmorphic facies and limb abnormalities helps in identifying the various associated organ anomalies and to arrive at an accurate syndromic diagnosis. These patients have to be managed by a multidisciplinary team of clinicians on a case-to-case basis and have a good prognosis if there are no major cardiac defects or intellectual disability.