Mar 27, 2014 goldenhar syndrome is a rare birth defect characterized by abnormal prenatal development of the head and face. Goldenhar syndrome also known as oculoauriculovertebral oav syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is considered a rare disease and a congenital one, meaning. Cervical spine instability in children with goldenhar s syndrome. Common clinical manifestations include limbal dermoids, preauricular skin tags, and strabismus. The purpose of this article is to present 16 patients with goldenhar s syndrome, the largest single series thus far. Goldenhar disease genetic and rare diseases information center.
Goldenhar syndrome can present with heart, kidney and lung malformations as well as limb deformities. Microtia appears to represent its less complex manifestation, however, several facial and systemic abnormalities may also be observed 9. Goldenhar syndrome is a rare congenital condition characterized by abnormal development of the eye, ear and spine. Goldenhar syndrome is the second most frequent craniofacial malformation.
Goldenhar syndrome also known as oculoauicular dysplasia, is a condition that is present at birth congenital birth defect arising from the abnormal development of the first and second branchial arches and mainly affects the development of the eye, ear, and spine. Goldenhar s syndrome is a rare condition described initially in the early 1950s. Synonyms of goldenhar s syndrome hemifacial microsomia are first and second branchial arch syndrome, facioauricular vertebral spectrum, oculoauricular vertebral dysplasia, and oculoauriculovertebral spectrum disorder. Goldenhar syndrome oculoauriculovertebral dysplasia, oavs is a rare, congenital disease arising from the abnormal development of the first and second branchial arches. Maurice goldenhar, goldenhar syndrome is a type of craniofacial microsomia cfm. Original article article original cervical spine instability in children with goldenhars syndrome david healey, md. Treatment strategy in goldenhar syndrome request pdf. Goldenhar syndrome gs is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. We present a case of multiple malformations detected in the morphology ultrasound at 22. This article also summarizes the characteristic features of patients with goldenhar syndrome. Goldenhar syndrome or oculoauriculovertebral dysplasia oavd is characterized by a wide range of congenital anomalies including ocular, auricular, facial, cranial, vertebral and cardiac. Children with goldenhar syndrome are born with partially formed or totally absent ears, benign growths of the eye, and spinal deformities such as scoliosis. Goldenhar syndrome is one of the most common congenital anomalies of the first and second branchial arches. Its aetiology is not yet clarified in the literature.
Goldenhars syndrome case report 69 discussion the study of this condition is still controversial because of its complexity and broad clinical aspects. The criteria we required for the diagnosis of goldenhars syndrome consisted of an eye abnormality lipoma, lipodermoid, epibulbar dermoid, or upper eyelid. Goldenhars syndrome is a rare condition described initially in the early 1950s. Rabb, in benumof and hagbergs airway management, 20. Goldenhar syndrome, a term that is often used synonymously with oculoauriculovertebral oav spectrum, is a rare disorder that is apparent at birth congenital. Goldenhar syndrome oculoauriculovertebral spectrum oavs is a rare congenital condition characterized by craniofacial abnormalities associated with anomalies of the spine, heart, kidney, central nervous and gastrointestinal system.
It consists of hemifacial microsomia hfm, epibulbar dermoids and vertebral. Goldenhar syndrome childrens hospital of philadelphia. Abstract purpose goldenhar syndrome consists of a combination of unilateral auricular appendages, auricular fistulas, and ocular epibulbar dermoids combined with a unilateral underdevelopment of. Its primary characteristics are the ocular, auricular outer and inner ear and vertebral manifestations, hence its pseudonym. It is not known whether the conditions included in the group really are different conditions or part of the same problem with different degrees of severity. Craniofacial abnormalities include the incomplete development of the eye, ear, nose, soft palate, lips and jaw.
Goldenhar syndrome is a rare congenital defect characterized by ocular symptoms including epibulbar dermoids, microphthalmia, anophthalmia, eyes asymmetrydysmorphy, cleft. Also known as oculoauriculovertebral spectrum or oav, goldenhar syndrome was first documented in 1952 by maurice goldenhar, an ophthalmologist and general practitioner. Chief markers of goldenhar syndrome are incomplete development of the ear, nose. May 22, 2017 goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine. Oculoauriculovertebral spectrum oavs refers to three rare disorders that many clinicians believe to be intimately related to one another and which represent the range of severity of the same disorder. The association of goldenhar syndrome and criduchat syndrome in this patient suggested that the chromosome 5p14 locus may harbor a gene implicated with goldenhar syndrome. Goldenhar syndrome ghs is a complex syndrome characterized by relation of mandibular hypoplasia, abnormality of the ear, ocular dermoid and vertebral disorders and hemi facial macrosomia. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Goldenhar disease is a condition that is present at birth and mainly affects. Treatment strategy in goldenhar syndrome katarzyna bogusiak, md, piotr arkuszewski, md, phd, katarzyna skorekstachnik, dds. The exact cause of goldenhar syndrome is unknown but considered to be multifactorial, i. Goldenhar syndrome, also known as oculoauicular dysplasia or oav, is a congenital birth defect which involves deformities of the face. Goldenhar syndrome is part of a group of conditions known as craniofacial microsomia. It is associated with anomalous development of the first branchial arch and second branchial arch.
Subjects and methods all patients in our series fulfilled the followingcriteria. Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. This paper describes gs features with special emphasis on oral characteristics. Common clinical manifestations include limbal dermoids, preauricular skin tags and strabismus. Maurice golden har, the swiss ophthalmologist in 1952 recorded three new cases in addition to the sixteen previously recorded and first described the syndrome in detail thus it came to be known as goldenhar syndrome 3. Goldenhar syndrome is a variant of the oculoauriculovertebral spectrum. Jun 23, 2015 goldenhar s syndrome is a birth defect resulting from the maldevelopment of the first two branchial arches, with incomplete development of the ear, nose, soft palate, lip and mandible.
Common features include missing ears and malformations of the jaw, eye, vertebrae, mouth and palate. A number of chromosomal abnormalities have been reported. Goldenhar syndrome is a craniofacial syndrome, which means that it causes certain abnormalities in the formation of the face and head. Pdf the authors present a case of goldenhar syndrome, with its characteristic features and variations. Goldenhar syndrome is a congenital birth defect which involves deformities of the face. Goldenhar syndrome is a rare congenital defect characterized by incomplete development of. Depending on the organs affected and the severity of the malformations the phenotype is highly variable table. Sep 19, 2018 15 apr goldenhars syndrome is a rare condition which was described initially in the early s. Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Goldenhars syndrome is a subset of hemifacial microsomia and is composed of hemifacial microsomia, epibulbar dermoid, and rib or vertebral anomalies.716 197 348 730 415 1437 594 950 972 1418 56 992 1137 315 1236 1488 378 1209 195 83 1284 247 445 1394 249 72 1440 769 122 1258 245 1086 817 1192 293 1427 582 427 1345 1262 1388