Goldenhar Syndrome with Unusual Features
نویسندگان
چکیده
*Senior Resident, **Associate Professor, ***Professor, Department of Ophthalmology, T.N.M.C. and B.Y.L. Nair Hospital, Mumbai. Abstract Goldenhar syndrome is a morphogenetic anomaly involving the 1st and 2nd branchial arches. It is also known as the oculo-auriculo-vertebral syndrome because of the association of eye anomalies with or without vertebral and ear anomalies. It has been also Goldenhar syndrome with bilateral epibulbar dermoid, preauricular tags, accessory tragus with unilateral renal agencies but without involvement of vertebral system.
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 کاملسندرم گلدنهار
Background : Hemifacial microsomia or Goldenhar syndrome is a congenital abnormality that it's main features are an one-sided under development of ear (or Artesia), jaw and neck. This syndrome is associated with additional anomalies and from view point of phenotype is highly variable. Case Report: The case was a one day old girl born to a 30 years old woman by normal vaginal delivery. Conge...
متن کاملAbsence of the common crus in Goldenhar syndrome.
We describe an unusual labyrinthine malformation in a case of Goldenhar syndrome studied with CT and steady-state MR imaging. A single posterosuperior semicircular canal was found with no common crus formation. The malformation could not be attributed to any embryologic development. Nosologic considerations are discussed.
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 کاملGoldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association
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 ...
متن کامل