Cases reported "Goldenhar Syndrome"

Filter by keywords:

Retrieving documents. Please wait...

1/131. Mesenchymal chondrosarcoma associated with Goldenhar's syndrome.

    Goldenhar's syndrome is characterised by bony abnormalities of the face, jaw and vertebral column. We report the first case of the development of a primary malignant neoplasm (mesenchymal chondrosarcoma) initially misdiagnosed as a meningioma, occurring in association with this syndrome. ( info)

2/131. Pulsatile expansion therapy for orbital enlargement.

    Experimental and clinical investigations have documented the modulatory role of the globe in the development of the orbit. In cases of absence or early loss of the globe, severe hypoplasia of the orbit and midface has been reported by several authors. Statical conformers and orbital osteotomies have been used to correct the resulting facial asymmetry. When replacing such conformers by increasingly larger ones, orbital structures are negatively influenced by the repeated trauma of surgical interventions. Simulating the modulatory role of the globe on orbital growth was the objective when developing a pulsatile device for orbital enlargement in cases of anophthalmia and microrbitism. The design, application and preliminary experience with a dynamic, pulsatile expanding system are presented. ( info)

3/131. goldenhar syndrome with rare associations.

    goldenhar syndrome is a malformation complex involving the structures arising from first and second branchial arches, the first pharyngeal pouch, first branchial cleft and primordia of the temporal bone. Though the syndrome itself is not very rare, the presence of polydactyly and hydrocephalus, which are rare associations, prompted us to report this case. ( info)

4/131. Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome?

    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. ( info)

5/131. hemifacial spasm or subcortical epilepsy?

    A child with Goldenhar's syndrome presented at about one week of age with stereotyped, repetitive paroxysmal episodes of hemifacial contraction, suggestive of partial seizures or hemifacial spasm. Later in life he also developed independent, permanent abnormal eye and chin movements identical in rhythm to those seen in myorhythmias, suggesting involvement of the dentato-olivary pathway. MRI demonstrated a hamartomatous lesion at the level of the pontomedullary junction. We speculate that the nature of the lesion could be responsible for the partial seizures mimicking hemifacial spasm and that because of its location, this same lesion could also be implicated in the genesis of myorhythmias. The presence of a hamartomatous lesion in a region affected by the abnormal development of the first and second branchial arches is not fortuitous. ( info)

6/131. Unilateral semicircular canal aplasia in Goldenhar's syndrome.

    A patient with Goldenhar's syndrome (oculoauriculovertebral dysplasia) and unilateral aplasia of all semicircular canals is presented. This is the first report of such a finding and may support the hypothesis that Goldenhar's syndrome and the CHARGE association have a common pathogenetic mechanism. ( info)

7/131. prenatal diagnosis of facial clefting as part of the oculo-auriculo-vertebral spectrum.

    We report a rare facial cleft (type 2 according to the Tessier classification) as the first presenting echographic sign of the oculo-auriculo-vertebral spectrum (OAVS) (goldenhar syndrome). Associated malformations included a left lateral cleft with macrostomia, left ear hypoplasia, left preauricular tag, single umbilical artery, hyposegmentation of the left lung and imperforatio ani. ( info)

8/131. 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. ( info)

9/131. Oculo-auriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9: coincidental findings or etiologic factor?

    Oculo-auriculo-vertebral (OAV) spectrum or goldenhar syndrome is a complex and heterogeneous condition characterized by hemifacial microsomia (unilateral ear abnormalities and ipsilateral mandibular hypoplasia) as well as vertebral anomalies and epibulbar dermoids or lipodermoids. Although most cases of OAV spectrum are sporadic, both autosomal recessive and autosomal dominant inheritance have been reported. Furthermore, the association of OAV spectrum with different types of chromosomal abnormalities has been described. We present a premature newborn delivered after 36 weeks of gestation, whose birth weight was 2,100 g, birth length 43 cm and head circumference 32.5 cm. OAV spectrum with associated axial skeleton anomalies, eventration of the right hemidiaphragm, accessory spleen, unlobulated right lung, agenesis of right kidney, right ovary and right uterine horn, and partial agenesis of corpus callosum were found. She was the second child of unrelated parents, who have a healthy boy. Both parents refused chromosomal analysis of their peripheral blood. trypsin G-banding and C-banding chromosomal analysis of the patient's peripheral blood revealed a pericentric inversion of chromosome 9 with break points at p11 and q13. This may be a coincidental or causal finding. ( info)

10/131. Goldenhar's syndrome: congenital hearing deficit of conductive or sensorineural origin? temporal bone histopathologic study.

    BACKGROUND: Oculoauriculovertebral dysplasia (OAVD) (Goldenhar's syndrome) is a congenital syndrome with ipsilateral deformity of the ear and face, epibulbar lipodermoids, coloboma, and vertebral anomalies. Goldenhar's anomaly has often been associated with a degree of congenital hearing deficits, almost always of a conductive origin, but a sensorineural component is also suspected in some cases, evident through malformations of the inner ear. patients AND methods: Both temporal bones of a 10-day-old deceased patient with oculoauriculovertebral dysplasia were examined by light microscopy. RESULTS: The ear deformities included deformity of the auricle, atresia of the external auditory canal, and malformation of the tympanic cavity and ossicles. Abnormalities of the stria vascularis and the semicircular canals were also demonstrated. Further inner ear deformities were not identified in this case. CONCLUSION: These histopathologic findings appear to confirm the conductive component of the congenital hearing deficit, but a sensorineural component could not be omitted. The ear alterations favor early developmental field defects. The causes of this condition are controversial. Recent results in genetic research pertaining to the MSX class genes permit better understanding of the variety, variability, and different degrees of severity of the anomalies described here. ( info)
| Next ->

Leave a message about 'goldenhar syndrome'

We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.