Goldenhar Syndrome
نویسندگان
چکیده
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.
منابع مشابه
Goldenhar Syndrome and Pericentric Inversion of Chromosome 9
Oculo-auriculovertebral dysplasia (Goldenhar) is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present ...
متن کاملCraniofacial abnormalities in goldenhar syndrome: a case report with review of the literature
Goldenhar syndrome (oculo-auriculo-vertebral spectrum) is a rare congenital anomaly of unclear etiology and characterized by craniofacial anomalies such as hemifacial microsomia, auricular, ocular and vertebral anomalies. In many cases, this syndrome goes unnoticed due to a lack of knowledge about its features and because of its associated wide range of overlapping anomalies. Herewith, we prese...
متن کاملCaudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex
Oculoauriculovertebral spectrum, or Goldenhar Syndrome, is a condition characterized by variable degrees of uni- or bilateral involvement of craniofacial structures, ocular anomalies, and vertebral defects. Its expressivity is variable; therefore, the term "expanded Goldenhar complex" has been coined. The Goldenhar Syndrome usually involves anomalies in craniofacial structures, but it is known ...
متن کاملAirway management in a patient with Goldenhar syndrome: a case report.
Children with Goldenhar syndrome are known to present airway management challenges for the anesthesiologist. We present the case of a 10-year-old child with Goldenhar syndrome, in whom a flexible Laryngeal Mask Airway (Intavent Orthofix, Ltd, Maidenhead, UK) was successfully used for eye surgery.
متن کاملA Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210
Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins varies with craniofacial anomalies, cardiac, vertebral, and central nervous system defects sporadically. We report a case of...
متن کامل