1/5. 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 = 1keywords = macrostomia (Clic here for more details about this article) |
2/5. Microvascular temporomandibular joint and mandibular ramus reconstruction in hemifacial microsomia.Microvascular temporomandibular joint (TMJ) and mandibular ramus reconstruction was performed in a 4-year-old hemifacial microsomia patient with multiple craniofacial and extracranial anomalies (goldenhar syndrome). Her major craniofacial anomalies included bilateral cleft lip and palate, left macrostomia, left microtia, and complete absence of the left vertical mandibular ramus and TMJ. Most of her other anomalies had been corrected surgically before TMJ and vertical mandibular ramus reconstruction, which was accomplished with a metatarsophalangeal (MTP) joint transplantation. The MTP joint was placed in hyperextended position in the skull base inserting the proximal phalanx under the remnants of the zygomatic arch and replacing the vertical mandibular ramus with the metatarsal bone. Straight mouth opening, correction of the midline, and normalized lateral movements of the mandible were accomplished. The graft includes two epiphyseal plates, which should maintain growth of the transplant. During the follow-up period (16 months) the achieved results have been maintained without adverse effects. The present technique appears to be a promising alternative in the treatment of children with Pruzansky type 3 hemifacial microsomia.- - - - - - - - - - ranking = 1keywords = macrostomia (Clic here for more details about this article) |
3/5. A case of oculo-auriculo-vertebral spectrum with long-term and comprehensive management.AIM: To show that a patient with severe oculo-auriculo-vertebral spectrum can achieve satisfactory occlusion and facial appearance through long-term and comprehensive management. methods: A patient, with oculo-auriculo-vertebral spectrum, had bilateral cleft lip and palate, macrostomia, malformed pinna, and unilateral hypoplasia of the zygomatic arch and mandible, which resulted in an asymmetric facial appearance characteristic of hemifacial microsomia. After bilateral lip repair and palatal closure, surgical repair of the pinna, nose, and cheiloplasty was performed. The patient was seen at the authors' dental hospital at 12 years 2 months of age. After lateral expansion of the maxillary arch, an edgewise multibracket appliance was placed and presurgical orthodontic treatment was begun. Combined maxillary and mandibular osteotomies were performed when the patient was 19 years of age, followed by genioplasty, multiple repair of the mandibular body and lip, and soft tissue transplantation to the left cheek, to improve facial symmetry. RESULTS AND CONCLUSION: After prosthetic treatment at 23 years of age, a stable and functional occlusion with a satisfactory facial appearance was achieved.- - - - - - - - - - ranking = 1keywords = macrostomia (Clic here for more details about this article) |
4/5. Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum.The Townes-Brocks syndrome (TBS) is comprised of a triad including characteristic anal, thumb, and ear anomalies. There are many other organ system abnormalities which may be present. However, the literature does not emphasize craniofacial findings except with reference to the typical ear configuration. A three-generation family is described in which craniofacial manifestations were prominent and a Goldenhar-like condition was considered as the most likely diagnosis. However, with the recent birth of an affected male who had an imperforate anus, the diagnosis of TBS was also considered. The family manifests a variety of Goldenhar-like findings, including epibulbar dermoids, hemifacial microsomia, preauricular tags, macrostomia, and micrognathia in addition to classical ear, radial, and anal findings of TBS. We report on this family to point out a possible biological relationship of these two conditions.- - - - - - - - - - ranking = 1keywords = macrostomia (Clic here for more details about this article) |
5/5. Anomalous inferior and superior venae cavae with oculoauriculovertebral defect: review of Goldenhar complex and malformations of left-right asymmetry.We observed a girl with an interrupted, left inferior vena cava with hemiazygous continuation, bilateral superior venae cavae, heart defects, and sacral agenesis. She had macrostomia and bilateral ear tags and pits, as in oculoauriculovertebral defect. Maternal diabetes was present. The combination, which we call OAV-heterotaxia complex, supports the view that some cases of oculoauriculovertebral defect may be part of a midline field defect of blastogenesis.- - - - - - - - - - ranking = 1keywords = macrostomia (Clic here for more details about this article) |