Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Goldenhar Syndrome”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMed1992

[Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].

The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

Abnormalities, Multiple↗
PubMed1995

Syringohydromyelia as a complication of Goldenhar syndrome.

Goldenhar syndrome is a multifocal developmental disorder consisting of ocular, auricular and vertebral anomalies. A case of Goldenhar syndrome is presented with a previously undescribed association with syringohydromelia. The pertinent literature is reviewed and possible mechanisms of the pathogenesis of syringohydromyelia in this syndrome are discussed.

Child↗
PubMed1994

[Fiberscopic intubation under general anesthesia for children with Goldenhar syndrome].

Goldenhar syndrome is characterised by an eye abnormality such as epibulbar dermoid and lipoma, associated with ear, mandibular, and/or vertebral anomalies. It is well documented that difficult intubation in patient with this syndrome may be expected because of mandibular hypoplasia and limitation of neck movement resulting from vertebral anomalies. We report anesthetic management of two children with Goldenhar syndrome, 9 and 14-year-old. By preoperative examination, two children were expected to be difficult in intubating trachea. We used our newly developed mask adapter which enabled us to perform fiberoptic bronchoscopy-aided tracheal intubation under general anesthesia under controlled ventilation. By using this adapter, under sevoflurane/nitrous oxide anesthesia with vecuronium, we could successfully intubate with a 6 mm spiral tube through the nostril without any major problems. Anesthesia and surgery went uneventfully, and no postoperative complications were noted. We confirmed that our newly developed mask adapter for fiberoptic bronchoscopy is as useful for children with difficult intubation as for adults.

Adolescent↗
PubMedDate not supplied

Orthopaedic manifestations of Goldenhar syndrome.

Goldenhar syndrome-hemifacial microsomia has been studied extensively with regard to its typical asymmetric craniofacial manifestations but little attention has been paid to its orthopaedic findings. The cases of 23 patients with this syndrome were reviewed in conjunction with a review of the literature. Associated orthopedic abnormalities included mainly spinal anomalies, clubfoot, congenital dislocation of the hip, Sprengel's deformity, and radial limb defects.

Abnormalities, Multiple↗
PubMed2006

Clinical manifestations in 17 Greek patients with Goldenhar syndrome.

Goldenhar (GS) syndrome is a well-recognised developmental disorder involving first and second branchial arches and characterized by considerable phenotypic variability. The present study presents clinical data on the morphologic features, hearing, ophthalmologic, orthopaedic, neurological, cardiovascular, genitourinary and gastrointestinal evaluation of 17 Greek patients (one pair of monozygotic twins) aged 20 days to 23 years with the clinical diagnosis of GS and with a normal karyotype. The most consistent findings were auricular defects (94%), followed by facial (76%) and ocular anomalies (65%), 70% unilateral, mainly right-sided. In the majority of our patients (90%) mandibular hypoplasia was ipsilateral to the dysplastic ear or the most severely affected ear in bilateral cases. Hearing loss, mainly conductive, was noted in 76% of our patients. Skeletal defects were evident in 23%, while cardiovascular, genitourinary and gastrointestinal in 18%, 23% and 12% respectively. The most frequent neurological manifestation was facial nerve paralysis (12%), while the incidence of mental retardation was higher (23%) than reported in the literature, presumably attributed to the severe hearing and vision loss. In a pair of monozygotic twins of our study discordance of clinical findings was noted. Precise evaluation of GS patients and multidisciplinary care management is necessary to avoid possible complications of many systems and to offer appropriate genetic counselling to the family.

Abnormalities, Multiple↗
PubMed2005

Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia.

A number of different disorders involving first and second branchial arch anomalies have been described as distinct entities, including Treacher-Collins-Franceschetti syndrome, Goldenhar syndrome, Nager syndrome and Miller syndrome. The significant phenotypic overlap between these disorders raises the issue of a common developmental origin. After the identification of mutations in TCOF1 as a general cause of the Treacher-Collins-Franceschetti syndrome, TCOF1 mutations were excluded in patients with unilateral signs of the Goldenhar syndrome spectrum. We also present two rare cases of bilateral Goldenhar syndrome and familial microtia with meatal atresia, respectively, in whom we also excluded TCOF1 mutations. Thus, genetic heterogeneity in different disorders of the first and second branchial arch development is supported.

DNA↗
PubMed1994

Urologic manifestations of Goldenhar syndrome.

OBJECTIVE: Goldenhar syndrome (oculoauriculovertebral dysplasia) is associated with anomalies in multiple organ systems. Renal abnormalities have also been reported with the complex, but the incidence of associated genitourinary malformations has not been defined. METHOD: We have reviewed our experience with 28 children with Goldenhar syndrome evaluated during the past twelve years. Twenty children underwent imaging evaluation of the urinary tract and 14 (70% of those imaged) children had urinary tract anomalies. RESULTS: The majority of anomalies presented as an incidental finding on a screening ultrasound (8 patients) or during cardiac catheterization (2 patients). Two children presented with urinary tract infection, 1 child presented with renal failure, and another was diagnosed antenatally. The genitourinary anomalies included the following: ectopic and/or fused kidneys (8 patients), renal agenesis (7), vesicoureteral reflux (5), ureteropelvic junction obstruction (2), ureteral duplication (2), and multicystic kidney (1 patient). Four children have undergone surgical intervention. CONCLUSION: Our experience in children with Goldenhar syndrome suggests that the incidence of genitourinary anomalies is higher than previously reported. A screening ultrasound in the neonatal period allows for early intervention in those children with significant urologic abnormalities.

Abnormalities, Multiple↗
PubMed2005

Spinal anomalies in Goldenhar syndrome.

OBJECTIVE: Goldenhar syndrome consists of the triad of craniofacial microsomia, occular dermoid cysts, and spinal anomalies. The exact nature of the spinal anomalies remains poorly defined in the existing craniofacial literature, possibly due to these anomalies being managed by orthopedic surgeons rather than by craniofacial surgeons. The aim of this study was to clarify the nature and extent of these spinal anomalies. METHOD: Review of case notes of patients who had their diagnosis confirmed following review by a clinical geneticist and in conjunction with radiographs (supplemented by three-dimensional computed tomographic [CT] scans where available). RESULTS: Seven patients fulfilled the entry criteria and had material available for study. A wide range of anomalies was present, including butterfly vertebrae; hemivertebrae, which produced secondary scoliosis; kyphosis; and rib anomalies. Anomalies occurred at all levels within the spine. CONCLUSION: The possibility of spinal anomalies at all levels of the spine should be considered by those treating cases of Goldenhar syndrome, because these anomalies cannot be predicted from the severity of the facial malformation.

Adolescent↗
PubMedDate not supplied

Corneal ulcers associated with Goldenhar syndrome.

Two patients with Goldenhar syndrome developed corneal ulcers. Previous acid burn of the cornea and prolonged topical corticosteroid administration occurred in Patient 1. Predisposing ocular anomalies in patients with Goldenhar syndrome include corneal hypesthesia; keratoconjunctivitis sicca, and exposure secondary to eyelid colobomas, lacrimal gland and duct anomalies, dermoids and lipodermoids, and neurologic deficits. Serious ocular morbidity may be prevented by searching for and adequately treating these predisposing factors. It is possible that embryonic events contribute to ocular complications in Goldenhar syndrome, in part, by causing hypoplasia or abnormal function of the trigeminal and facial nerves.

Abnormalities, Multiple↗
PubMedDate not supplied

Outcome of intensive oral motor and behavioural interventions for feeding difficulties in three children with Goldenhar Syndrome.

OBJECTIVE: The facial anomalies and surgeries associated with Goldenhar Syndrome often lead to feeding problems. The purpose of this study was to demonstrate the outcome of Goldenhar Syndrome children admitted to the day patient paediatric feeding programme. SUBJECTS: Three children with Goldenhar Syndrome and feeding difficulties participated, mean age 3 years. Average length of stay was 8 weeks. Upon admission all were dependent on tube feedings. METHODS: The children received four therapeutic sessions daily. The sessions included oral motor interventions, behavioural techniques and a structured meal. Data regarding children's feeding were collected at admission and discharge. RESULTS: The patients had 52% acceptance of food/drink at admission and 88.7% at discharge. Expels were 30% at admission and 14% at discharge. Mouth clean was 9.3% at admission and 97% at discharge. Total inappropriate feeding behaviours averaged 83% at admission and 27.3% at discharge. Children averaged 3.4 g per meal at admission and 105.4 g at discharge. Two children were completely weaned from tube feedings by discharge. CONCLUSIONS: Results support the hypothesis that combining oral motor and behavioural interventions offer effective treatment for children with Goldenhar Syndrome. Many children with Goldenhar Syndrome are reliant on tube feedings and this regimen allows them to eat orally, thereby improving their nutrition and quality of life.

Behavior Therapy↗
PubMed2004

Severe abnormalities of the pons in two infants with goldenhar syndrome.

We describe 2 cases of Goldenhar syndrome with severe abnormalities of the pons. The first case is a 10-month-old Caucasian female infant. At birth the girl showed polydactyly, labiopalatoschisis, right ear agenesis, left eye coloboma and vertebral anomalies. She also had marked hypotonia, severely reduced movements and respiratory and feeding abnormalities. She required gastrostomy at 5 months and tracheostomy at 7 months. Brain MRI scans showed moderate cerebellar hypoplasia and severe abnormalities of the pons with a congenital cleft. The child died at age 12 months. Case 2 is a Caucasian boy. Clinical signs and presentation were similar to case 1. The child also had severely reduced lacrimation, sweating, with thermoregulation abnormalities. He also underwent gastrostomy at 18 months. The child is now 3 years old and is able to sit only with support. Brain MRI was similar to case 1. The association of Goldenhar syndrome and pons abnormalities in 2 subjects suggests that this is more than a mere coincidence. Further studies and characterization of the genes involved in Goldenhar syndrome are needed to establish an adequate genotype-phenotype correlation.

Abnormalities, Multiple↗
PubMed1984

[Goldenhar syndrome. Discordance in monozygotic twins].

Child here described is a new-born male, the firstborn twin, who showed clinical-radiological manifestations compatible with an oculo-auriculo-vertebral syndrome or Goldenhar's syndrome. A comparison of chromosomes, identification of serological types and determination of antigens of histocompatibility (HLA) showed them to be similar in both twins, thus showing identity of monozygots . Of great importance in the anamnesis is a radiological study--cholecystography--which was practiced between 4th and 6th weeks of pregnancy. Differences shown and possible intervention of radiation as etiology mark the especial interest of this case.

Abnormalities, Radiation-Induced↗