1/85. 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.- - - - - - - - - - ranking = 1keywords = ear (Clic here for more details about this article) |
2/85. 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.- - - - - - - - - - ranking = 5keywords = ear (Clic here for more details about this article) |
3/85. 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.- - - - - - - - - - ranking = 48.150574638184keywords = auricular, ear (Clic here for more details about this article) |
4/85. 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.- - - - - - - - - - ranking = 2keywords = ear (Clic here for more details about this article) |
5/85. 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.- - - - - - - - - - ranking = 1keywords = ear (Clic here for more details about this article) |
6/85. 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.- - - - - - - - - - ranking = 14keywords = ear (Clic here for more details about this article) |
7/85. Early treatment of severe mandibular hypoplasia with distraction mesenchymogenesis and bilateral free fibula flaps.The technique of distraction has revolutionized the treatment of mandibular hypoplasia; however, presently large mandibular defects still require bone grafts. Microvascular grafting is commonly used in adults. Conversely, in pediatric reconstruction, nonvascularized rib grafts remain standard. Unfortunately, resorption of nonvascularized bone remains a major issue, particularly when soft tissue is hypoplastic. This case study represents a combination of techniques in the treatment of severe mandibular deficiency, and introduces the concept of distraction mesenchymogenesis. The patient was a 2 1/2-year-old boy with severe bilateral Pruzansky class III mandibular hypoplasia. He had a permanent open mouth posture, an overjet of 23 mm, and was unable to move the lower mandibular segment. His oropharyngeal airway diameter was 2.2 mm and he was tracheostomy dependent. The patient was treated with distraction of the lower jaw mesenchyme followed by bilateral functional free fibular microvascular flaps containing reinnervated muscle. This created a well-vascularized body, ramus, and condyle bilaterally within an adequate soft-tissue envelope. Postoperatively, the overjet was reduced to 5 mm. The patient can now actively move his mandible. Airway diameter increased to 10 mm, and the patient is able to tolerate intermittent tracheostomy plugging. This innovative combination of techniques allows early intervention, limits graft resorption, and improves airway control.- - - - - - - - - - ranking = 2keywords = ear (Clic here for more details about this article) |
8/85. Oto-mandibulo-facial dysostosis: a case report.The case presented here is a 6 year old male child with oto-mandibulo-facial dysostosis syndrome. Oto-mandibulo-facial dysostosis is a term used for a unilateral congenital birth defect in which abnormalities can range from minor unilateral ear anomalies or preauricular tags to severe ones involving anotia and mandibular hypoplasia.- - - - - - - - - - ranking = 49.150574638184keywords = auricular, ear (Clic here for more details about this article) |
9/85. Histopathologic study of temporal bone and eustachian tube in oculoauriculovertebral spectrum.Bilateral temporal bone specimens from a 21-month-old girl and a left temporal bone-eustachian tube (ET) specimen from a full-term female newborn, both with oculoauriculovertebral spectrum, were studied histopathologically. The external and middle ears demonstrated severe anomalies, similar to those of previous reports describing the histopathologic findings of this syndrome. In addition, despite having a normal auricle, the 21-month-old child had bilateral hypoplastic cochleas as seen in Mondini dysplasia. The newborn had several anomalies of the ET, including a widely opened cartilaginous portion of the ET lumen and absence of the lateral lamina of the ET cartilage. We discuss the implications of the observed anomalies with regard to developmental and clinical issues.- - - - - - - - - - ranking = 1keywords = ear (Clic here for more details about this article) |
10/85. Goldenhar's syndrome associated with occipital meningoencephalocele--case report.A male neonate presented with Goldenhar's syndrome (oculoauriculovertebral dysplasia), a combination of facial microsomia and auricular malformation, associated with occipital meningoencephalocele. Three-dimensional computed tomography images clearly showed a suboccipital cranial cleft extending to the foramen magnum and hypogenesis of the left temporal bone. The patient died of heart failure due to ventricular septal defect at age 5 months.- - - - - - - - - - ranking = 49.150574638184keywords = auricular, ear (Clic here for more details about this article) |
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