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1/11. Endoscopic treatment of sinonasal disease in patients who have had orthognathic surgery.

    Certain skeletofacial patterns may be predisposed to aggravated sinonasal disease postoperatively. These may include, but are not limited to, facial skeletal asymmetries with high septal deviations and those with obstructive nasal respiration and mouth breathing that leads to skeletal growth disturbances such as vertical maxillary hyperplasia and apertognathism. These sinonasal diseases may partly be the result of osteomeatal blockage by pre-existing structures, or synechial shelves and webs blocking normal maxillary antral mucosal flow. The use of nasal antral windows placed anteriorly in the lateral nasal wall at the time of downfracture LeFort (Hosaka window) do not seem to benefit the drainage of the maxillary antrum. This is because physiological flow often bypasses this region. If patients present postoperatively with new sinonasal disease or the aggravation of pre-existing symptoms, evaluation by both endoscopically assisted intranasal and axially and coronal computed tomography (CT) is recommended. Functional endoscopic sinus surgery by the minimally invasive Messerklinger technique, combined with intranasal use of laser-assisted turbinoplasty and soft tissue lysis, have been successfully used for most of these patients. Because the anatomical positioning of the midfacial structure can potentially affect patients with a predisposition to sinonasal physiological disturbances, consideration should be given to preoperative evaluation and discussion of potential consequences.
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2/11. prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.

    A prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism.
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keywords = nose
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3/11. Klippel-Trenaunay syndrome (angio osteohypertrophy syndrome): a report of 3 cases.

    Klippel-Trenaunay syndrome was first reported in 1900 by Klippel and Trenaunay. The syndrome is characterized by the triad of vascular nevi, venous varicosity, and hyperplasia of soft tissue-and possibly bone-in the affected area. The original description was made with regard to the extremities. The syndrome is diagnosed on the basis of 2 or 3 symptoms. The 3 patients reported here presented with hemangioma and hypertrophy of the jawbone and concomitant malocclusion. There were clinically no obvious varicose veins. It appears that gravity plays an important role in the venous drainage from the head and neck region, and this could be the reason for the rarity of varicose veins in the head and neck region when compared with lower extremities. In addition, 2 of the 3 cases showed exophytic pedunculated growth arising from the gingiva, which has not been reported in any previous case reports. The following report presents the clinical features in the orofacial region and highlights the clinical significance of this syndrome.
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keywords = nose
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4/11. Probable case of Binder syndrome in a skeleton from Quarai, new mexico.

    Binder syndrome (maxillonasal dysplasia) is a not uncommon disorder reported in the clinical literature and is characterized by hypoplastic development of the midface. An extensive review of the paleopathology literature did not reveal any examples of Binder syndrome. In this paper, a probable case of Binder syndrome in a female skeleton, 16-17 years at age of death, from Quarai, new mexico (ca. AD 1375-1450) is presented. This case was identified during standard documentation prior to repatriation at the National Museum of natural history, Smithsonian Institution.The skull of this individual (381243) exhibits unusual facial features, including an underdeveloped midface, flattened glabella, absent nasal spine, and apparent alveolar prognathism, in addition to a vertebral anomaly. All of these characteristics are consistent with skeletal dysmorphologies associated with Binder syndrome. Measurements of the Quarai skull are compared with published data on Binder patients and normal control groups in order to quantify the nature of the observed morphology. Univariate analysis of craniometric/cephalometric data provides further support for a diagnosis of Binder syndrome, as critical measurements on the Quarai skull are consistent with those reported in Binder patients and significantly different from those reported for normal control groups. In addition to presenting a probable prehistoric case of Binder syndrome, this paper demonstrates the applicability of using direct comparisons of clinical data to help identify unusual conditions in skeletal remains.
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keywords = nasal
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5/11. Transmaxillary osteogenesis distraction combined with orthopedics and orthodontics in the correction of a severe retrusion of the upper maxilla.

    A patient having adequate records and diagnosed as having Binder syndrome is presented. Nasomaxillary hypoplasia requires a definitive treatment, use of bone grafts, upper maxillary osteotomies, and advancement or a combination of both. Bone grafts can be reabsorbed, and complete maxillary advance modifies normal occlusion in a certain way, because the posterior sector is not compromised. The aim of this case treatment is to create a new osseous surface that makes the eruption of the permanent dental pieces easier and gives the correct skeletal position to the upper maxilla with distraction osteogenesis combined with an orthopedic appliance, transmaxillary segment osteotomy, and subsequent orthodontics. The absence of the osseous surface in the upper maxilla and the presence of supernumeraries in the anterior region determined the permanence of most of the temporary dental pieces, resulting in the impossibility of making the exchange to permanent dental pieces. The technique and the devices are simple and easy to manipulate. After the treatment, an adequate dental relation is restored as well as effective advance of the upper maxillary bone; thus, an excellent functional and stable esthetic result is achieved, avoiding any complication of velopharingeal incompetence.
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keywords = nose
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6/11. Facial anomalies in patients with cytochrome-c-oxidase (COX) deficiency: a dysneurulation.

    The authors report 3 cases of cytochrome-c-oxidase deficiency (2 cases of kearns-sayre syndrome and 1 case of chronic progressive external ophthalmoplegia) with central nervous system alterations and facial anomalies. The facial anomalies are high forehead, wide nasal bridge, upturned nose, long and flat philtrum (alterations depending on frontal-nasal-premaxillary structures which derive from prosencephalic neural crests), hypoplastic maxilla and mandible, ophthalmoplegia (alterations of maxilla and III-VI cranial nerve nuclei, which derive on the mesencefalic neural crests), low set ears, short neck (alterations of the 3rd, 4th branchial arch derivatives, which arise from rhombencephalic neural crests). The authors conclude that cytochrome-c-oxidase deficiency in embryonic stage can injure, in kearns-sayre syndrome and chronic progressive external ophthalmoplegia, distal tissues of face and central nervous system depending on neural crests, and that the symptomatology of these diseases can be ascribed to dysneurulation.
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keywords = nasal, nose
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7/11. Correction of facial deformity using a Red III device in a patient with Antley-Bixler syndrome.

    Antley-Bixler syndrome was first described in 1975 and to date at least 44 cases have been reported. In addition to brachycephaly, this syndrome is associated with midface hypoplasia, bilateral radiohumeral synostosis, multiple joint contractures, long bone fractures, dysplastic ears, "pear shaped" nose, and occasionally urogenital or cardiac defects. The authors report a case in a 23-year-old man with severe midface deficiency treated using distraction osteogenesis. A modified Le Fort III osteotomy was performed, and nasal subunit and remaining Le Fort III segment was distracted separately. The classic RED II design was found to be insufficient, so the authors added an extra horizontal bar to the system and converted it to a RED III design. Midface advancement was 11 mm from the porion to the orbitale and 31 mm at point A. Nasal advancement at the nasal root level was 5 mm. There were no complications, and at 4 months after surgery, advancement was stable without any relapse.
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ranking = 0.17483024424608
keywords = nasal, nose
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8/11. Maxillo-nasal dysplasia (binder syndrome): antenatal discovery and implications.

    Binder syndrome (BS) or maxillo-nasal dysplasia is an uncommon developmental anomaly affecting primarily the anterior part of the maxilla and nasal complex. The characteristic findings are a failure of development in the premaxillary area with associated deformities of the nasal skeleton and the overlying soft tissues. Affected individuals typically have an unusually flat, underdeveloped midface (midfacial hypoplasia), with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a 'reverse overbite' (or class III malocclusion). A case of BS was diagnosed at 24 weeks of gestation using two- and three-dimensional ultrasound. The first sign was an isolated flattened fetal nose in the mid-sagittal plane. Further ultrasound imaging showed the absence of the naso-frontal angle, giving impression of flat forehead and small fetal nose. We discuss about this entity.
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ranking = 0.6993209769843
keywords = nasal, nose
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9/11. Hereditary cranium bifidum persisting as enlarged parietal foramina (Catlin marks) on cephalometric radiographs.

    Cranium bifidum occultum is a rare skull ossification disorder referred to as the Catlin mark characterized by ossification defects in the parietal bones. Evidence suggests that this condition has a strong genetic heterogenicity. It is believed that, as calvarial growth continues, ossification in parietal bones fills these defects, and they can remain as parietal foramina on either side of the sagittal suture. During the conversion phase of cranium bifidum to the persistent parietal foramen, there will be periods when the brain is unprotected because of the delay in the ossification of the parietal bones. This report describes cranium bifidum occultum diagnosed as an incidental finding in a 14-year-old boy who initially had large bilateral unossified parietal bones and many congenital abnormalities. The patient underwent various surgical procedures over 6 years for the correction of cleft lip and palate. With craniofacial corrections and orthodontic treatment, the patient now has stable dentition and a firm palate with most of the parietal bones ossified. Cranioplasty was not recommended by his family physician after consultation with a neurosurgeon. Orthodontists should be familiar with this genetic abnormality because it causes delay in parietal bone ossification, and they should be able to distinguish between anatomic parietal foramina and enlarged parietal foramina (persistent unossified areas of cranium bifidum occultum), especially when craniofacial abnormalities are noticed.
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keywords = nose
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10/11. Binder syndrome in a mother and her son.

    Binder syndrome or maxillonasal dysplasia is characterized by maxillary hypoplasia and a flat, vertical nose. Inheritance is uncertain. We report on a mother and her son with Binder syndrome. The proband was the last child of a kinship of seven children. Three sisters, three brothers and the parents were normal. The proband had a maxillary hypoplasia and a flat, vertical nose. The columella was short, the nostrils had a triangular shape and the upper lip was convex with an acute nasolabial angle. There were no dental abnormalities apart from those secondary to malocclusion. Height and intelligence were normal. After an uncomplicated pregnancy, the proband delivered a boy who had low nasal bridge, hypertelorism, maxillary hypoplasia and a small nose with a broad columella. Although the majority of cases of maxillonasal dysplasia are sporadic, familial occurrence has been reported by a number of authors. In six pedigrees the recurrence was in second or third degree relatives. recurrence in sibs with unaffected parents has been observed seven times and an affected parent and child has been rarely reported. The Binder phenotype may be heterogeneous. The pattern of abnormalities seen in this condition does not represent a causally defined entity.
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keywords = nasal, nose
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