Oculo-auriculo-vertebral Research Articles

Oculo auriculo vertebral dysplasia; Goldenhar Syndrome

Goldenhar’s syndrome is a rare condition which was described at first in the early 1950’s. which was characterized by a combination of anomalies such as dermal epibulbar cysts, auricular appendices and malformation of the ears. In 1963, the name oculo-auriculovertebral (OAV) dysplasia for this condition was suggested by gorlin and he also incorporated vertebral anomalies as one of the signs of syndrome. Here, we describe a case of 7 month old male patient with preauricular ear tags, limbal dermoid, cleft palate with tongue tie.

Clinical Facial Study of the Parents of Children with OAV (Oculo-Auriculo-Vertebral) Syndrome. Cases and Controls

Introduction: The oculo-auriculo-vertebral syndrome is a complex disease of the head and neck. Aim: The purpose of this study was to look for facial asymmetry, measuring both sides of the mandible and external ear in the parents of these patients in a clinical way, to see if it could be considered as a minor manifestation of the disease. Patients and Methods: A clinical, observational study was done with 50 trios and their parents’ controls, at the Instituto Nacional de Rehabilitacion LGII in 2019, from January to May. Mandible and ear measurements were done. Results: All of our patients had microtia and facial asymmetry, and in 17 cases, other anomalies. We compared both sides of the mandible in the patients’ parents and in the parents’ controls. The results showed differences only in the fathers, and in the comparison with the controls, we found statistical differences only in women, family and non-family cases. The ears did not show any differences. Discussion: It is very interesting that we found differences in the measurements of the mandible of the patients’ mothers and their controls; in the mothers the mandible was bigger than in the controls, this probably means that the development of the cranial structures is modified by some genetic variants. No differences were found in the measurements of the ears. Conclusion: It is very difficult to know exactly if the differences we found are important or not. The clinical measurements could be a good option to establish if the parents have minor manifestations that could explain some heritability.

GOLDENHAR SYNDROME: A CASE REPORT

Goldenhar 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. The phenotype is highly variable. Goldenhar syndrome is one of the variants of craniofacial anomalies. It is unilateral in 70-80% of the cases. It is known as oculoauriculo vertebral (OAV) dysplasia. The syndrome complex includes limbaldermoid or lipodermoid, pre-auricular tags, hemifacial asymmetry and vertebral anomalies. These are the common anomalies of the condition.This work reports a case 14 year old male in ophthalmology department of MMIMSR who presented with limbaldermoid and on evaluation was found to have the classical signs of this syndrome. Also included is the current protocol for treatment of this syndrome.

Goldenhar Syndrome- A Case Report

Goldenhar 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. The phenotype is highly variable. Goldenhar syndrome is one of the variants of craniofacial anomalies. It is unilateral in 70-80% of the cases. It is known as oculoauriculo vertebral (OAV) dysplasia. The syndrome complex includes limbaldermoid or lipodermoid, pre-auricular tags, hemifacial asymmetry and vertebral anomalies. These are the common anomalies of the condition.This work reports a case 14 year old male in ophthalmology department of MMIMSR who presented with limbaldermoid and on evaluation was found to have the classical signs of this syndrome. Also included is the current protocol for treatment of this syndrome.

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.

To describe the most prominent clinical features of a cohort of patients with oculo-auriculo-vertebral (OAV) dysplasia in Brazil. A review of medical records of patients with diagnosis of OAV from 1990 to 2010 was performed in a medical genetics center. 41 patients were included in the study. Their average age at diagnosis was 2y 10mo (34,4±48,8 months) and the female proportion was 53.7%. Mean maternal age at patient's birth was 28.5y (min: 17, max: 46y) for mothers and 31.4y (min: 21, max: 51y) for fathers. Most patients (97.5%) had auricular involvement, with facial manifestation in 90.2%, spinal in 65.9%, ocular in 53.7%, 36.6% with cardiovascular involvement, 29.3% urogenital, and 17% of the cases with central nervous system (CNS) involvement. The classic OAV triad was present in only 34%. All patients except one had concomitant problems in other organs or systems. Since the diagnosis of OAV dysplasia relies only on a comprehensive medical evaluation, it is imperative that clinicians be aware of the most common presentation of the syndrome. Once suspected, every patient should undergo a complete medical evaluation of multiple systems including complementary exams. Treatment of these patients is based on surgical correction of malformations and rehabilitation.

Extended use of temporomandibular joint (TMJ) replacement. A case of combined bimaxillary osteotomy and TMJ replacement

The patient is an 18 yr old male with Goldenhar syndrome. Goldenhar syndrome is a developmental disorder that is believed to have genetic and environmental factors. Goldenhar syndrome, often referred to as Oculo-Auriculo-vertebral (OAV) syndrome or hemifacial microsomia, is associated with incomplete development of the facial structures usually on one side of the body. Patients will usually require combined orthodontic and orthognathic surgery to manage the resultant facial asymmetry.

Goldenhar syndrome

Goldenhar syndrome, a term that is often used synonymously with “Oculo-Auriculo-Vertebral (OAV) spectrum”, is a rare disorder that is apparent at birth (congenital).1,5,6 The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. However, such abnormalities tend to involve the cheekbones, jaws, mouth, ears, eyes and/or bones of the spinal column (vertebrae).1,6 Although, in most cases, such malformations affect one side of the body (unilateral), approximately 10–33 per cent of affected individuals have such malformations on both sides of the body (bilateral), with one side typically more affected than the other (asymmetry). In the majority of such cases, the right side is more severely affected than the left.1,7,8

Goldenhar syndrome: A case report with facial ocular auricular vertebral manifestations

Goldenhar’s Syndrome (GS) is a rare condition described initially by Von Arlt. It is characterized by a combination of anomalies: epibulbar tumors, preauricular tags and malformation of the ears. In 1963, Gorlin suggested the name oculo-auriculo-vertebral (OAV) dysplasia for this condition and also included vertebral anomalies as signs of the syndrome. The malformations are said to arise from the first and second branchial arches. This work reports a case of GS in 11-years-old boy with the clinical signs of pseudo macrostomia, preauricular tags and epibulbar tumours.

Goldenhar Syndrome in Association with Duane Syndrome

Goldenhar syndrome (GHS) is also known as Oculo-Auriculo-Vertebral (OAV) syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS) is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error.

P09.16: Goldenhar's syndrome a case report and review of the literature

Oculo-auriculo-vertebral (OAV), or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, mandible) and spinal anomalies. Goldenhar-Gorlin syndrome encompasses a wide variety of fetal malformations occurring during embryogenesis. The abnormalities are usually asymmetric affecting facial and vertebral structures. There have been reported associated anomalies involving the cardiac, renal, and pulmonary structures. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformation of the ears. We report the prenatal ultrasonographic diagnosis made at 17 weeks of gestation in a family with a negative history. The prenatal diagnosis was suspected due to the presence of craniofacial anomalies (mouth, orbit, eyes, mandible). The etiology of this rare disease is not fully known, as it has shown itself variable genetically and of unclear causes. The affection is very rare one, 1/25000 live births with M:F report of 3 : 2.

A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities, and vertebral anomalies of different sizes and shapes. Most cases are thought to be sporadic. However, a few families were reported to have an autosomal recessive inheritance and other families’ presentation of the syndrome strongly supported an autosomal dominant inheritance. We report OAV in a female infant presenting with tracheomalacia, diaphragmatic hernia, encephalomeningocele, sacral neural tube defect, and cardiac defect and her brother having no more than dysmorphic features. The mode of inheritance in this family supports an autosomal recessive inheritance where the transmission was from normal first-degree consanguineous parents to one of the sons and to the daughter. This report further broadens the clinical presentation and symptoms of OAV and supports the hypothesis advancing OAV as a genetically heterogeneous disorder.

Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI

Analysis of the middle ear with fetal MRI has not been previously reported. To show the contribution of fetal MRI to middle ear imaging. The tympanic cavity was evaluated in 108 fetal cerebral MRI examinations (facial and/or cerebral malformation excluded) and in two cases, one of Treacher Collins syndrome (case 1) and the other of oculo-auriculo-vertebral (OUV) spectrum (case 2) with middle ear hypoplasia identified by MRI at 27 and 36 weeks' gestation, respectively. In all 108 fetuses (mean gestational age 32.5 weeks), the tympanic cavity and T2 hypointensity related to the ossicles were well visualised on both sides. Case 1 had micro/retrognathia and bilateral external ear deformity and case 2 had retrognathism with a left low-set and deformed ear. MRI made it possible to recognize the marked hypoplasia of the tympanic cavity, which was bilateral in case 1 and unilateral in case 2. Both syndromes are characterized by craniofacial abnormalities including middle ear hypoplasia, which cannot be diagnosed with US. The middle ear cavity can be visualized with fetal MRI. We emphasize the use of this imaging modality in the diagnosis of middle ear hypoplasia.

Complications and satisfaction with pediatric osseointegrated external ear prostheses

To determine the complication rate and the patient satisfaction of titanium osseointegrated ear implants for congenital microtia and anotia. To discuss external ear prostheses as a treatment option for children with microtia. Retrospective chart review of patient records from a tertiary pediatric otolaryngology practice. The charts were reviewed for all pediatric patients who had undergone titanium implants for attachment of auricular prostheses from 2000-2006. Data collected included demographic information, congenital syndrome, number and size of screws placed, occurrence of skin reactions, presence of other complications, and length of time patients wore the prosthetic ear. Eight patients, nine ears, were implanted. Median age was 7 years old. 6/8 had oculoauriculovertebral (OAV) syndrome, and 2 had isolated microtia. All titanium screws achieved complete osseointegration, and no implants have failed. 5/27 (18%) of the screws contacted dura, but no patients exhibited CSF leak, meningitis, or other central complications. 3/9 ears developed skin complications at the abutment sites, and 1/9 required revision soft tissue surgery. All the patients without current skin complications wear their prosthesis full time during waking hours. Titanium osseointegrated ear prosthesis is a safe and useful procedure for children with microtia. It should be presented as an option for these patients, with low complication rates and high acceptance rates by the patients.

Oculo‐auriculo‐vertebral spectrum: Associated anomalies, functional deficits and possible developmental risk factors

Swedish patients with the oculo-auriculo-vertebral (OAV) spectrum participated in a prospective multidisciplinary investigation. The aims of the study were to describe their systemic and functional defects, especially autism spectrum disorders, and to search for possible etiologic risk factors. Available medical records were studied and the mothers answered a questionnaire on history of prenatal events. A clinical examination evaluating systemic findings, vision, hearing, speech, oral and swallowing function, and neuropsychiatric function, especially autism, was made. Eighteen patients, (11 males, 7 females) aged 8 months to 17 years with OAV were studied. Most frequent systemic malformations included, ear abnormalities (100%), ocular malformations (72%), vertebral deformities (67%), cerebral anomalies (50%), and congenital heart defects (33%). Functional defects consisted of hearing impairment (83%), visual impairment (28%), both visual and hearing impairment (28%), difficulties in feeding/eating (50%), speech (53%), mental retardation (39%), and severe autistic symptoms (11%). Three children were born following assisted fertilization (two intracytoplasmatic sperm injection, one in vitro fertilization), two mothers reported early bleedings, and six (33%) mothers had smoked during pregnancy.

Respiratory complications and Goldenhar syndrome

A 29-year-old female was referred to hospital with progressive asthmatic complaints. On presentation, the patient had been experiencing orthopnoea, an audible wheeze during daily activities, and sporadic coughing without sputum production. The patient had a history of recurrent airway infections and a 5-kg weight loss during the previous year, and had stopped smoking several years before. She was known to have oculo-auriculo-vertebral (OAV) syndrome, i.e . Goldenhar syndrome, which is a developmental disorder involving mainly first and second branchial arch anomalies.

Autosomal dominant microtia and ocular coloboma: New syndrome or an extension of the oculo‐auriculo‐vertebral spectrum?

The oculo-auriculo-vertebral (OAV) spectrum is an etiologically heterogeneous condition classically consisting of microtia, hemifacial microsomia, epibulbar dermoids, and vertebral anomalies. Other eye findings described in OAV include upper eyelid colobomas, ptosis, and varying degrees of microphthalmia or even anophthalmia. Iris and/or retinal colobomas have rarely been reported. We describe two familial cases of apparent OAV with ocular colobomas. We postulate that iris and/or retinal colobomas associated with OAV may represent a subgroup within the OAV spectrum with autosomal dominant inheritance, as in the families described herein. Since microtia can result from aberrant migration of neural crest cells into the first and second branchial arches during early embryonic development, and concomitant deficient neural crest migration into the developing eye can lead to ocular coloboma and or iris heterochromia, it may be that the altered gene or genes in our familial cases are involved with regulation of neural crest development.

Congenital Mandibular Hypoplasia: Analysis And Classification

Mandibular hypoplasia is a frequently encountered craniofacial difference and can be classified into three groups: congenital, developmental, and acquired. The focus of this article is on the congenital group, the majority of which is associated with syndromes. There have been numerous publications on patients with syndromic congenital mandibular hypoplasia; however, there has been no investigation and differentiation of the "nonsyndromic" patients. The purpose of this study was to analyze this subgroup of patients with nonsyndromic congenital mandibular hypoplasia to determine incidence, clinical presentation, and treatment.A retrospective analysis of all children treated for congenital mandibular hypoplasia at the Children's Hospital of Philadelphia between 1975 and 2003 was performed. Two hundred sixty-six patients were identified during this 27-year period. Of these 266 patients, 148 presented with oculo-auriculo-vertebral (OAV) spectrum, 52 with mandibulofacial dysostosis, 31 with Pierre Robin sequence, and 17 with miscellaneous syndromes. The remaining 18 patients were identified as having congenital mandibular hypoplasia without any known syndrome. Of the 18 patients with nonsyndromic congenital mandibular hypoplasia, 17 had primary bilateral growth anomalies and 1 had a primary unilateral growth disturbance resulting in bilateral deformity. Seven patients were products of a complicated pregnancy, 10 patients required tracheotomy or prolonged intubations, and 7 required gastric tube feedings. Associated anomalies included temporomandibular joint ankylosis in five patients, aglossia/microglossia in three patients, and rare craniofacial clefts in three patients. The average number of procedures required to treat the mandibular deformity for each patient was six. Although mandibular hypoplasia is a common craniofacial anomaly, patients manifesting nonsyndromic congenital mandibular hypoplasia are a rare subgroup. Case reports illustrating the range of mandibular deformities are presented.

Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS).

Using a statistical methodology, we aimed to identify a group of probable cases of oculo-auriculo-vertebral (OAV) dysplasia and to investigate possible relationships between different patterns of congenital malformations. Among 5,260 infants with multiple malformations collected from 4 large registers of congenital malformations, we identified 312 probable OAV cases. With the same technique, we have earlier defined epidemiological delineations of three other well-known non-random associations of congenital malformations (CHARGE, VATER, and OEIS). We found convincing relationships between OAV and VATER or CHARGE but none between OAV and OEIS or between the three malformation complexes CHARGE, VATER, and OEIS. An association between two conditions indicates similarities in pathogenesis or in etiology. We suggest that the connection between OAV and CHARGE could be related to a common pathogenetic mechanism: disturbed neural crest development.

A Theory on the Embryogenesis of Oculo-Auriculo-Vertebral (Goldenhar) Syndrome

Oculo-auriculo-vertebral (OAV) syndrome is made up of anomalies, mainly of first and second branchial arch derivatives. Characteristic features include structural malformations of the external and middle ears, face, and jaw. It has been previously suggested that hemorrhage involving the first and second branchial arches causes hypoplasia and malformation of the face and auricle, but this theory cannot explain the multisystemic and protean manifestations of this disease. The theory set forth describes the cutaneous, facial, vertebral, and systemic anomalies in the OAV spectrum as a result of ectodermal nondisjunction early in development with subsequent mesodermal tethering. A subgroup of OAV may therefore be a disorder of ectodermal nondisjunction involving the otic placode similar to the spectrum of diseases such as occult spinal dysraphism that is associated with the same mechanism in the embryonic neuraxis. This would imply a molecular mechanism involving cell adhesion molecules that unify the two disease processes and explain the multisystem anomalies of the OAV syndrome.

Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndrome

Delleman syndrome (oculocerebrocutaneous syndrome) is characterized by orbital cysts, periorbital skin appendages, and focal cutaneous hypoplasia. We describe a male infant with findings associated with this condition, including an eyelid appendage, discrete hypoplastic skin lesions, unilateral microphthalmia, and hydrocephalus. In addition, he had striking unilateral mandibular hypoplasia and microtia, features often present in the oculoauriculovertebral (OAV) spectrum. However, hypoplastic skin lesions and eyelid appendages are not features of the OAV spectrum. The marked degree of hemifacial microsomia present in this child has not been previously noted in Delleman syndrome. Two patients with Delleman syndrome have been previously described who have features typically present in the OAV spectrum. This case demonstrates that characteristics of both Delleman syndrome and the OAV spectrum may be present in one individual.