Goldenhar syndrome (Oculo-Auriculo-Vertebral Spectrum) (OAVS) is a rare congenital condition characterized by craniofacial abnormalities associated with anomalies of the spine, heart, kidney, central nervous and gastrointestinal system. Craniofacial abnormalities include the incomplete development of the eye, ear, nose, soft palate, lips and jaw. We report a case of Goldenhar syndrome in a 14-years-old male patient. There are no other identified cases of congenital diseases in the patient’s family history. At the age of 2, the patient was operated for complete right cleft lip and cleft palate dehiscence and it was then, that the suspicion for Goldenhar syndrome was harboured.
The Goldenhar Syndrome diagnosis is clinical, as there are no specific genetic tests to detect this condition. The patient’s karyotype was performed in the Genetics Clinic in order to order to exclude an eventual chromosomal abnormality. The result had been normal (46, XY).
The ophthalmologic examination revealed the microphthalmia of the right eyeball. The ENT exam revealed facial dysmorphism, malformation of the right auricular pavilion with atresia of the external auditory canal and right nasal fossa malformation with deviated septum. The CT examination revealed a right orbit reduced in size, the right eyeball reduced in size with numerous annular calcifications, cleft lip and cleft palate, the area of the bone defect being occupied by soft tissue; flawed implanted dystrophic teeth; hypoplasia of the vertical and horizontal branch of the mandible; absence of the tympanic bone and the right external auditory canal; internal auditory canals, present semicircular ducts and complex vertebral malformations. Being a rare syndrome with many defects, early diagnosis is important, in order to apply appropriate treatment.
Published on: Apr 11, 2015 Pages: 41-44