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 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The basic features of Goldenhar syndrome are preauricular appendices, epibulbar dermoids, vertebral and cardiac anomalies, and hypoplasia of the lungs. The syndrome appears to be caused by early damage during the first or second month of embryonic development. Prognosis is most often determined by the underlying heart disease. In the present study a 24-year-old female student is reported who exhibited a preauricular appendix on the right side, severe thoracic scoliosis, aplasia of the middle and lower lobes of the right lung, dextropositio cordis and an atrial septal defect with severe pulmonary hypertension. Cineangiocardiography revealed a mitral valve prolapse with slight mitral regurgitation and a dilated right ventricle with severe tricuspid regurgitation. Left and right ventricular function was slightly to moderately reduced. Selective coronary arteriography revealed a coronary fistula from an atrial branch of the left coronary artery to the right atrium. Symptomatic therapy with digitalis, anticoagulation and repeated venesection was initiated because of the severe hemodynamic findings. However, the patient developed syncope at increasingly frequent intervals and died 3 months after the initial examination.
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PMID:[Goldenhar syndrome]. 76 Jan 85

Sixteen children with anomalies of the auricle and/or middle ear who presented malformations of the face, mouth, upper airway, spine, limbs, heart, gastrointestinal (GI), and/or genitourinary (GU) systems, were described. While clusters of anomalies suggested syndromes such as the oculo-auriculo-vertebral syndrome of Goldenhar, hamifacial microsomia, mandibulo-facial dysostosis (Treacher Collins syndrome), Pierre Robin, Klippel-Feil, Moebius, Duane, and/or VATER syndromes, many children did not fit what are usually considered even minimal criteria for these syndromes. Several children had malformations which fit the description of more than one syndrome. The importance of investigating the children for unsuspected anomalies, especially of the GU system, was emphasized. Life threatening problems in this group consisted of airway problems, congenital heart disease, and major anomalies of the GI and GU systems. Better management of sucking, swallowing and airway problems might have decreased the early morbidity and mortality (3/16) in this group. Children with multiple defacing anomalies may not be mentally retarded so that aggressive management of their visceral anomalies and hearing problems, and early educational intervention are mandatory. Delay in development may be due to hearing loss, vestibular impairment, ataxia, the consequences of early malnutrition, and multiple hospitalizations rather than to mental retardation. A pessimistic attitude in infancy is unwarranted since it is impossible to predict which children will end up competitive individuals.
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PMID:Patterns of anomalies in children with malformed ears. 96 14

This report is a case of a 4 year old male child who was admitted for meningitis. On clinical examination he was diagnosed as a case of oculo-suriculo-vertebral dysplasia with congenital heart disease, i.e., tetralogy of Fallots besides his presenting picture of meningitis. During his ophthalmic checkup for the conspicuous presence of epibulbar dermoid, he was discovered to have upper lid coloboma, double elevator palsy, and Grade 1 Duane retraction syndrome in his right eye while the pathognomic feature, a dermolipoma, was present in the left eye. The oculo-auriculo-vertebral dysplasia, as described by Goldenhar, is a disease complex of structures developed from the Ist and IInd branchial arch. The important feature of this case is the bilateral involvement of the disease complex over and above the presence of ocular motility disorders--Duane retraction syndrome and double elevator palsy.
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PMID:Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome--a case report. 145 86

The paper presents five cases of the Syndrome described by Goldenhar, which consists in oculo-auriculo-vertebral alterations. Classic descriptions relate the presence of epibulbar dermoid, pre-auricular appendixes, mandible hypoplasia and vertebral anomalies. Excepting by some vertebral alterations, all the other anomalies were common to the five cases. This syndrome may be accompanied by congenital cardiopathy in a percentage varying from 15 to 50%, depending on the publications. The reason of hospitalization was the real presence of congenital cardiopathy of important clinical repercussion. Three patients had Tetrad of Fallot, one transposition of the great arteries, and the last one total annomalous pulmonary venous connection, which died due to clinical complications. The four patients were submitted to surgical correction of their cardiac defects, being the face defects programmed to the corrected later on.
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PMID:[Goldenhar syndrome. Report of 5 cases in association with cardiac malformations]. 262 92

The association of unilateral mandibulofacial dysostosis and anophthalmos at the same side is reported. The proband presented at the age of six months with: right anophthalmos and hypoplasia of the orbit at the same side, hypoplasia of the right mandible and maxilla, right external ear deformity, cyanotic heart disease, hemivertebrae, cataract and corneal opacity in the left eye. This case shows the maximal effect of the abnormal development of the first branchial arch (the mandible, maxilla, and ears) on the globe and the orbit. The other end of the spectrum in which the minimal effect on the globe was present (unilateral absence of choriocapillaris and retinal pigment epithelium inferiorly) was reported by Cotlier & Alghadyan in 1981. This supports the concept that abnormal development of the mandible may influence the development of the orbit and the globe. The extent of the influence of the abnormal developing first branchial arch on the eye is discussed.
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PMID:Anophthalmos and first branchial arch defects. 409 32

Frontonasal malformation (FNM) is a developmental field defect representing abnormal morphogenesis of the frontonasal eminence. The oculoauriculovertebral spectrum (OAVS) has been used to describe a broader range of first and second branchial-arch defects including hemifacial microsomia and Goldenhar's syndrome. A combination of FNM and OAVS has been described in the literature in 13 cases. This condition has been labeled as the oculoauriculofrontonasal syndrome, as well as ophthalmofrontonasal dysplasia. We have evaluated four patients with both FNM and OAVS. The pattern of malformation involves only the craniofacies: they have no vertebral defects, heart disease, or encephaloceles. The categorization of these four individuals and those in the literature raises interesting issues regarding syndrome classification. Originally, it was suggested that perhaps this disorder was a variation of Goldenhar's syndrome. However, now that it has become evident that FNM and OAVS are malformation patterns of etiologic and presumably pathogenetic heterogeneity, a more likely hypothesis is that when these two defects occur together, this represents a unique syndrome pattern. The purpose of this article is to suggest that the combination of OAVS and FNM may be a distinct entity, representing a discreet subset of patients.
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PMID:Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome. 893 80

The features of Goldenhar complex have been well-described and classically include branchial arch abnormalities, epibulbar dermoid and vertebral abnormalities. We have identified an infant with these features in association with complex congenital heart disease and intrahepatic biliary atresia. Although Lambert described an autosomal recessive disorder with an association of biliary atresia and branchial arch abnormalities, none of those cases had epibulbar dermoid. Diagnostic considerations in this case include inclusion of biliary atresia as a new feature in the expanding spectrum of the Goldenhar complex, versus Lambert syndrome with epibulbar dermoid.
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PMID:Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome? 1089 66

Forty-three children, aged 23 months to 14 years, received 102 anaesthetics for insertion of bone-anchored hearing aids, each lasting approximately 30-60 min. Forty of the children had a recognised syndrome involving the head and neck, including Goldenhar's and Treacher Collin's syndrome. The incidence of congenital heart disease was 19%. Pre-existing conditions, anaesthetic technique, grade of intubation, complications and discharge were audited. Sixteen of the patients were classified as Grade 3 or 4 intubations. Over the 7 years, laryngeal mask airway usage increased for airway maintenance rather than tracheal intubation, as did the use of propofol for induction rather than inhalational methods. Intra-operative complications (5.9%) were related to the airway, and postoperative ones (17.6%) mainly to nausea and vomiting. Surgery was performed as a day case in 71% of the patients despite some long-distance travel.
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PMID:Anaesthesia for insertion of bone-anchored hearing aids in children: a 7-year audit. 1149 44

A 12-year-old male was admitted with postaxial polydactyly on the right hand, congenital heart disease, vertebral anomaly, and facial asymmetry. Investigations confirmed the diagnosis of a congenital disease, Goldenhar's syndrome, with the rare associations of polydactyly and probable autosomal dominant inheritance.
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PMID:Goldenhar's Syndrome. 1221 57

Microtia is thought to have a multifactorial inheritance, but several investigators disagree. Here we report our survey of the hereditary factors and possible causes. We conducted a questionnaire survey of 428 patients with microtia who were being treated at two hospitals from September 2006 to September 2008. We recorded their age, sex, affected side, duration of gestation, birth weight, age of parents at patients' birth, accompanying malformations, number of siblings, familial occurrence, smoking habit of parents, and medication/disorders of mother during pregnancy, and analysed the results. There were preponderances of male (61%), unilateral (90%) and right-sided disease (59%). Other than the first and second branchial arch syndrome, microtia is often accompanied by other congenital deformities, in particular congenital heart disease; cleft lip, or palate, or both; vertebral defects; and anomalies of extremities. The occurrence in first-degree relatives was 2%. Most maternal disorders and medication taken during pregnancy were common and there was no clear link. Statistically, there was a tendency to low birth weight and high maternal age, but it is not possible to identify these as a specific cause of microtia. Multifactorial inheritance is unlikely to be the cause of microtia as there was only one finding in agreement with its widely accepted characteristics. However, we cannot completely discount it as there were too few cases in some groups to make a judgement.
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PMID:Clinical and genetic analysis of microtia in Japan. 2299 46


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