Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association

Abstract

Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits. Dextrocardia or pulmonary hypoplasia in GS has previously been reported separately. We report a 7-year-old female child of GS with combination of anomalies, dextrocardia, and pulmonary hypoplasia, which is a rare association.

Ipsilateral hemifacial microsomia with dextrocardia and pulmonary hypoplasia: A case report

“…A comprehensive search of PubMed and Embase was performed to identify studies using MeSH terms and keywords “HFM” or “oculo-auriculo-vertebral syndrome” or “Goldenhar Syndrome” or “microtia”. Only thred cases[ 14 - 16 ] of HFM combined with pulmonary hypoplasia and dextrocardia were retrieved and reviewed (Table 1 ). Two patients were male with an ipsilateral malformation (right-side involvement), and one case was female with left HFM.…”

Síndrome de Goldenhar. Reporte de un caso

“…El diagnóstico está basado en los hallazgos unilaterales más comunes: defectos auriculares (incluyendo hipoplasia ótica y trago accesorio, 94 %), anomalías faciales (microsomía hemifacial y micrognatia, 76 %), anomalías oculares (dermoides epibulbares y/o coloboma, 65 %) y anomalías vertebrales (hemivértebras). La mayoría de los rasgos fenotípicos son ipsilaterales al lado afectado de la cara (3,9). La ecografía tridimensional es útil en la evaluación de la cara fetal (10).…”

“…El pronóstico depende de la gravedad y combinación de malformaciones/ defectos sistémicos asociados. Las formas graves pueden causar discapacidad importante (2,3). Se presenta un caso de diagnóstico prenatal de síndrome de Goldenhar.…”

Breaking the silence: A qualitative exploration of parental perspectives of children with Goldenhar Syndrome

“…Some studies have reported familial transmission [ 15 ] suggesting this leads to autosomal recessive inheritance (two copies of an abnormal gene being present) or dominant inheritance (an overly dominant gene causing a mutation). Multifactorial inheritance (genetic and environmental factors) has also been proposed [ 16 ]. Terhaar's 1972 [ 17 ], discovery of monozygotic twins concordant for OAVs pointed towards a genetic explanation for this syndrome.…”