Rare cardio-respiratory findings in goldenhar syndrome (case report)

Abstract

The Goldenhar Syndrome is the rare congenital abnormalities that include Facio-Auriculo-Vertebral Spectrum, First and Second Branchial Arch Syndrome, Oculo-Auriculo-Vertebral Spectrum, oculo-auriculo-vertebral disorder. Oculo-auriculo-vertebral disorder (OAVD) represents the mildest form of the disorder, while Goldenhar syndrome presents frequently as the most severe form. Hemifacial microstomia appears to be an intermediate form. Goldenhar Syndrome includes patients with facial asymmetry to very severe facial defects (resulting from unilateral facial skeleton hypoplasia) with abnormalities of skeleton and/or internal organs. The most significant are epibulbar dermoids, dacryocystitis, auricular abnormalities, preauricular appendages, preauricular fistulas and hypoplasia of the malar bones, mandible, maxilla and zygomatic arch. Some patients are found to have oculo-auriculo-vertebral disorder, namely low height, delayed psychomotor development, retardation (more frequently seen with cerebral developmental anomalies and microphthalmia), speech disorders (articulation disorders, rhinolalia, different voice disorders, unusual timbre), psycho-social problems, autistic behaviors. The authors describe the clinical case of Goldenhar Syndrome in boy a 3-months-year-old. This case demonstrates a rarely described association of oculo-auriculo-vertebral disorders, malformation of respiratory system (hypoplasia of the lower lobe of the left lung with relaxation of the left cupula of the diaphragm), heart abnormality (atrium septa defect).