1/51. Congenital facial neuropathy in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome).Four patients with clinical features of Goldenhar-Gorlin syndrome who showed facial paralysis on clinical examination are presented. The fourth case died following surgery for cleft lip. autopsy revealed hypoplasia of the right facial nerve in its intracranial segment, with small right facial nucleus in the brain stem. Nosological aspects of the Goldenhar-Gorlin syndrome are discussed. Peripheral facial paralysis, as a part of this syndrome, is reviewed in the light of clinical and pathological findings and in its relationship to cardiac anomalies. It is suggested that Goldenhar-Gorlin syndrome is a part of a so-called cardiofacial syndrome.- - - - - - - - - - ranking = 1keywords = oculoauriculovertebral, hemifacial microsomia, microsomia, hemifacial (Clic here for more details about this article) |
2/51. A patient with VACTERL association, amelia and hemifacial microsomia.We report on a girl with anal atresia, renal aplasia, vertebral and rib anomalies, amelia and hemifacial microsomia. The patient demonstrates the overlap between the VACTERL association and the oculoauriculovertebral dysplasia. We propose that amelia is a severe manifestation of the limb defects which occur in these developmental dysplasias.- - - - - - - - - - ranking = 0.65238830373882keywords = oculoauriculovertebral, hemifacial microsomia, microsomia, hemifacial (Clic here for more details about this article) |
3/51. Two-year follow-up of distraction osteogenesis: its effect on mandibular ramus height in hemifacial microsomia.Distraction osteogenesis has been used to lengthen the mandible in patients with hemifacial microsomia. Questions regarding soft tissue and skeletal growth after distraction osteogenesis have not been clearly elucidated in the literature. In this case report, a 2-year follow-up of distraction osteogenesis in a 7 year old boy is documented with lateral and posterior/anterior cephalometric analysis. The analysis was performed preoperatively and at specific postsurgical periods to evaluate the facial soft tissue and skeletal growth patterns. Objective analysis of this growing patient after distraction osteogenesis clearly demonstrates that the anteroposterior elongation of the mandible is relatively stable, whereas the vertical lengthening and soft tissue effects are minimal. Critical evaluation of other patients who have undergone distraction osteogenesis is needed to determine if this was an isolated incident or the expected result in similar patients.- - - - - - - - - - ranking = 0.50298537967352keywords = hemifacial microsomia, microsomia, hemifacial (Clic here for more details about this article) |
4/51. Monocanalicular intubation for dacryostenosis in oculo-auriculo-vertebral dysplasia (hemifacial microsomia) with congenital corneal anesthesia.PURPOSE: To present a case of oculo-auriculo-vertebral dysplasia associated with corneal anesthesia and ipsilateral dacryostenosis that was successfully treated with monocanalicular lacrimal intubation. methods: Case report. RESULTS: Previous neurotrophic corneal ulcers in a child with hemifacial microsomia had become secondarily infected from a stagnant tear lake, resulting in significant corneal scarring and visual loss. A single monocanalicular stent maintained nasolacrimal patency without causing further corneal trauma, despite constant medial gaze because of wide lateral tarsorrhaphy and contralateral occlusion therapy for amblyopia. CONCLUSIONS: Monocanalicular stents may aid the treatment of dacryostenosis in the face of compromised corneal sensation.- - - - - - - - - - ranking = 0.50298537967352keywords = hemifacial microsomia, microsomia, hemifacial (Clic here for more details about this article) |
5/51. 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 = 0.1005970759347keywords = hemifacial microsomia, microsomia, hemifacial (Clic here for more details about this article) |
6/51. Unilateral aplasia of the middle cranial fossa floor in atypical hemifacial microsomia.We present the first report of a patient with atypical hemifacial microsomia (HFM) and unilateral aplasia of the floor of the middle cranial fossa, glenoid fossa, and portions of her posterior fossa. The patient also developed a Chiari I malformation with cervical syrinx over a 3-year interval. This case report highlights the critical role of imaging in revealing serious, but clinically occult, structural abnormalities, as well as the evolution in the pathogenetic understanding of HFM.- - - - - - - - - - ranking = 0.50298537967352keywords = hemifacial microsomia, microsomia, hemifacial (Clic here for more details about this article) |
7/51. Unilateral arhinencephaly in goldenhar-gorlin syndrome.The post-mortem examination of the brain of a 2 1/2-year-old girl with clinical featutes of oculo-auriculo-vertebral dysplasia and hemifacial microsomia (Goldenhar-Gorlin syndrom) revealed a unilateral absence of the olfactory foramina of the lamina cribrosa of the ethmoid bone and ipsilateral absence of olfactory bulb and tract. Other cerebral abnormalities were also present. In this report, unilateral arhinencephaly in this disorder has been documented for the first time and an attempt has been made to correlate various nosological, clinical and pathological aspects of the case with previously reported instances of arhinencephaly. It is concluded that unilateral arhinencephaly occurs in a variety of cranial and facial abnormalities and is not specific for any particular syndrome.- - - - - - - - - - ranking = 0.18310113967492keywords = hemifacial microsomia, goldenhar, microsomia, hemifacial (Clic here for more details about this article) |
8/51. Oculoauriculofrontonasal syndrome (OAFNS) in a nine-month-old male.We report a nine-month-old Caucasian male with features seen in oculoauriculovertebral spectrum (OAVS) and frontonasal dysplasia sequence (FND) born to normal, non-consanguineous parents and review the literature. His malformations included a left pre-auricular skin tag, severely hypoplastic right pinna without an external canal, severely everted and hypoplastic left upper eyelid, bilateral cleft lip and palate, bifid broad nasal tip, ocular hypertelorism, micrognathia, hypoplastic mandible, an extra cervical rib on the left, hemivertebrae at T3-4, agenesis of the posterior corpus callosum with a midline lipoma, and an extra renal pelvis. This constellation of anomalies is consistent with the diagnosis of oculoauriculofrontonasal syndrome (OAFNS) which appears to be a distinct condition from either OAVS or FND but with overlapping features.- - - - - - - - - - ranking = 0.1494029240653keywords = oculoauriculovertebral (Clic here for more details about this article) |
9/51. Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome?We report the combination of hemifacial microsomia, external auditory canal atresia, deafness and acro-osteolysis in several members of a highly consanguineous Asian family. In addition Mullerian anomalies have been found in two female members of the family. The external auditory canal stenosis and Mullerian anomalies in this family are similar to those reported by Winter et al. [(1968) J Pediatr 72 : 88-93] and overlap with those found in goldenhar syndrome and Mullerian duct/renal aplasia/cervicothoracic somite dysplasia (MURCS), CHARGE and VATER associations. However, to the authors' knowledge, acro-osteolysis has not been reported in patients with any of these conditions. overall, the findings in this family appear to be unique and the presence of consanguinity suggests an autosomal recessive condition with variable expression.- - - - - - - - - - ranking = 0.17358802685942keywords = hemifacial microsomia, microsomia, hemifacial (Clic here for more details about this article) |
10/51. 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 = 0.60358245560823keywords = hemifacial microsomia, microsomia, hemifacial (Clic here for more details about this article) |
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