845 resultados para craniofacial malformation


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With the exception of the cleft lip, developmental defects (DD) of the lip are rare. The upper lip originates from the ectomesenchyme and is formed by the merging of the nasal medial and lateral processes with the maxillary process. Disturbances during this formation period can cause DD with functional and/or esthetic repercussions. We present a case of DD of the upper lip in a patient with a history of progressive growth of the left lateral portion of the upper lip that occurred from the time of birth until the age of 22 years. Clinical examination revealed hypertrophy of the area from the left philtral columns to the left commissure of the lip, extending the portion of the surface mucosa creating a flaccid and asymptomatic tissue mass. All other buccal structures appeared to be within normal limits and without any evidence of defects or deformities. In the surgical planning we decided to carry out corrective surgery in two phases. The first phase accomplished a conservative excision of the total abnormal labial tissue mass with a CO2 laser radiation (5 W in continuous mode, bunch diameter φ = 0.6 mm with a power density of 768 W/cm2 and fluency of 0.231 J/cm2) being careful to preserve the vermilion portion of the lip. Postsurgical clinical evaluations were done every three days until the skin sutures were removed and then every seven days until two months post surgery. While the entire mass of excessive tissue could not be completely removed, the removal of the excessive mucosal tissue produced a very good outcome relative to lip function, with a good esthetic result without scarring, and good tissue mobility. The results showed that the CO2 laser is an extremely useful instrument that can provide excellent control of the surgical field and allow for healing that produces excellent functional and esthetic results. © 2005 Taylor & Francis.

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Arsenic is an environmental pollutant that influences the male reproductive function, affecting the spermatogenesis process in the testis and causing alterations in the sperm. The objective of this work was evaluate the reproductive efficiency in adult male rats exposed to arsenic and the possible male-mediated structural malformations. The animal were treated with sodium arsenato (3,6 mg/Kg, i.p.), twice a weak, for 15, 30, 45, 60 or 75 days whereas control received only distilled water. Results have showed a reduced pregnancy rate associated to a decrease in the fertility potencial and to a increase in the preimplantation loss. There was a decrease in the fetal weights, as showed by its average. Malformations rate, postimplantation loss and resorptions were unaffect by treatment. These results suggest that chronic exposure to arsenic provokes reduction on fertility of male rats. Further studies are required to clarify the arsenic effects on male reproductive system and male-mediated effects on progeny.

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Aim: the aim of this study is to assess and locate the Foramen of Huschke. Study design: anatomical. Material and Method: using contrast material like gutta-percha and barium sulfate, through extraoral radiographs, such as panoramic, submental vertex and corrected saggital linear Temporal Mandibular Joint tomograms in four skulls where we clinically checked the existence of foramen of Huschke. Results: The results proved that the foramen of Huschke can be observed in skulls submitted to contrast using radiographic techniques.

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Apert syndrome is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with mental retardation usually present. The objective of this study was to correlate brain malformations and timing for surgery with neuropsychological evaluation. We also tried to determine other relevant aspects involved in cognitive development of these patients such as social classification of families and parents' education. Eighteen patients with Apert syndrome were studied, whose ages were between 14 and 322 months. Brain abnormalities were observed in 55.6% of them. The intelligence quotient or developmental quotient values observed were between 45 and 108. Mental development was related to the quality of family environment and parents' education. Mental development was not correlated to brain malformation or age at time of operation. In conclusion, quality of family environment was the most significant factor directly involved in mental development of patients with Apert syndrome.

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To evaluate the reproductive performance and the development of their offspring on rat pregnancy. Wistar pregnant rats were gavaged with 0 mg/kg wb/day (control group, n = 20) and 166.5 mg/kg/day of a mixture of vitamin C, hesperidin and piperidol (experimental group, n = 20) during the organogenic period (from day 5 to 14 of pregnancy; positive vaginal smear = day 0). The female rats were killed on day 21 of pregnancy. The number of implantations, resorptions (dead embryos), and live/dead fetuses were counted for the analysis of the postimplantation loss rates. There was neither alteration in maternal reproductive performance, but it was verified an increase of the number of fetuses presenting dilated urether, hydronephrosis, and reduced ossification of skull due to the treatment of female rats with a mixture of vitamin C, hesperidin and piperidol, these abnormalities were considered transitory and may not interfere on offspring development. It was not verified other type of major malformation neither the appearance of fetuses presenting atrophy of upper limbs that it could be associated to use of this drug.

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Cleidocranial dysplasia (CCD) is a rare syndrome usually caused by an autosomal dominant gene, although 40% of cases of CCD appear spontaneously with no apparent genetic cause. This condition is characterized by several cranial malformations and underdevelopment, absence of the clavicles, and multiple supernumerary and impacted permanent teeth. The diagnosis of this condition is usually based on the presence of the main features (supernumerary teeth, partial or total absence of one or both the clavicles, and bony malformations) and on clinical and familial evidence. The bony and dental features of CCD may be visualized on radiographic images of the face and skull. Here, we present a familial case of CCD and discuss the importance of dental radiographs in diagnosis of the condition.

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Purpose: To describe alterations observed in patients with congenital clinical anophthalmia and the occurrence of association with other ocular and extra ocular abnormalities. Methods: An observational retrospective study was conducted evaluating 12 patients with congenital clinical anophthalmia at Faculdade de Medicina de Botucatu-UNESP, between 1992 and 2005. In those patients it was observed the ocular abnormalities, severity, laterality, follow-up and to systemic abnormalities associated. The congenital clinical anophthalmia have been associated to major severity abnormalities extra-oculars, mainly when the anophthalmia was bilateral, such agenesis of corpus callosum, others craniofacial anomalies and cardiac defects. In the cases unilateral, the alteration associated more frequently was the facial asymmetry, showing the direct correlation between anophthalmos and development of orbit and face. Conclusion: There was relation between congenital clinical anophthalmia and ocular abnormally and extra-ocular abnormally. Patients with bilateral anophthalmos disease have more severe alterations. anophthalmia congenital attends a course with abnormalities of development of the face.

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Acute myelopathy are characterized by spinal cord dysfunction, developing sensitive, motor and autonomic signs and symptons. Since they are relatively rare, there are some difficulties to early diagnosis and to the beginning of the treatment. So, literature was reviewed to describe the main aetiologies of acute non compressive myelopathy: 1) demyelinating diseases; 2) systemic disease; 3) parainfectious; 4) delayed radiation myelopathy; 5) vascular myelopathy; 6) idiopatic and 7) vitamin B12 deficiency. Besides, we suggest an algorithm to initial approach of these patients and further aethiologic investigation. © Copyright Morelra Jr. Editora.

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Rearrangements involving chromosomes 2 and 22 were described not only as acquired abnormalities in a variety of human neoplasias but also in the constitutional karyotype suggesting the existence of a greater fragility in some specific regions in these chromosomes. Patients with DiGeorge and Velocardiofacial syndromes have a deletion on 22q11 leading to haploinsufficiency for one or more gene(s). We report a patient with velocardiofacial syndrome in which cytogenetic and fluorescence in situ hybridization analysis showed a rare t(2;22) and deletion in the 22q11 region. © 2007 Lippincott Williams & Wilkins, Inc.

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This article is the first known case report of Fraser syndrome in the dental literature. Its purpose was to present the clinical manifestations, oral findings, and dental treatment of a 14-year, 10-month-old female patient. Fraser syndrome is a rare recessive autosomal genetic disorder characterized by multisystemic malformation, usually comprising cryptophthalmos, syndactyly, and renal defects. The child presented with: (1) hydrocephaly; (2) face asymmetry; (3) low-inserted ears; (4) flat nose bridge; (5) cryptophthalmos; (6) bilateral absence of eyeballs; (7) hypertelorism; (8) syndactyly on the left fingers and toes; (9) skeletal defects; and (10) lower limb asymmetry. The intraoral examination revealed: (1) complete primary denture; (2) malocclusion; (3) tooth crowding; (4) ogival palate; (5) normal labial frena; (6) absence of lingual frenum (not compromising the tongue movements); (7) parched lips; (8) supragingival calculus adhered to all tooth surfaces; and (9) moderate gingivitis. The dental treatment consisted of periodic monitoring of the patient's oral health status and supragingival scaling associated with topical applications of 0.12% chlorhexidine digluconate gel at 2-week intervals to reduce gingivitis.

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Objective: the current study aims at following up radiographically the evolution of the midpalatal suture during the expansion procedure since the opening of the suture until bone formation. Methods: the sample comprised 38 patients in the mixed dentition stage submitted to the rapid palatal expansion protocol of the Hospital for Rehabilitation of Craniofacial Anomalies. Results: it was observed an individual variation on the period of bone ossification of the midpalatal suture, which justifies the radiographic follow-up as determinant for the appliance removal. Due to long-term post-treatment stability, the expander should be removed after the new suture is completely formed. Conclusions: the findings show that it is necessary more than three months for the complete reorganization of the midpalatal suture during the passive phase of the rapid palatal expansion.

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Purpose: Bone maintenance after mandibular reconstruction with autogenous iliac crest may be disappointing due to extensive resorption in the long term. The potential of the guided-bone regeneration (GBR) technique to enhance the healing process in segmental defects lacks comprehensive scientific documentation. This study aimed to investigate the influence of polylactide membrane permeability on the fate of iliac bone graft (BG) used to treat mandibular segmental defects. Materials and Methods: Unilateral 10-mm-wide segmental defects were created through the mandibles of 34 mongrel dogs. All defects were mechanically stabilized, and the animals were divided into 6 treatment groups: control, BG alone, microporous membrane (poly L/DL-lactide 80/20%) (Mi); Mi plus BG; microporous laser-perforated (15 cm2 ratio) membrane (Mip), and Mip plus BG. Calcein fluorochrome was injected intravenously at 3 months, and animal euthanasia was carried out at 6 months postoperatively. Results: Histomorphometry showed that BG protected by Mip was consistently related to larger amounts of bone compared with other groups (P ≤ .0001). No difference was found between defects treated with Mip alone and BG alone. Mi alone rendered the least bone area and reduced the amount of grafted bone to control levels. Data from bone labeling indicated that the bone formation process was incipient in the BG group at 3 months postoperatively regardless of whether or not it was covered by membrane. In contrast, GBR with Mip tended to enhance bone formation activity at 3 months. Conclusions: The use of Mip alone could be a useful alternative to BG. The combination of Mip membrane and BG efficiently delivered increased bone amounts in segmental defects compared with other treatment modalities. © 2008 American Association of Oral and Maxillofacial Surgeons.

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Background: The large vestibular aqueduct syndrome (LVAS) is characterized by the enlargement of the vestibular aqueduct associated with sensorioneural hearing loss. The level of hearing loss varies and may be fluctuant, progressive or sudden. Vestibular symptoms may be present. The diagnosis is reached by imaging methods. Aim: To report an LVAS case. Method: A female infant was submitted to a computerized tomography of the ears and to audiologic tests. Results: Enlargement of the vestibular aqueduct of more than 1.5mm and sensorioneural hearing loss in the right ear were observed. Conclusion: With an early hearing evaluation it is possible to diagnose hearing loss, even in children were this loss is unilateral. Although the literature indicates that the diagnosis of LVAS occurs at a later age, in this case time etiologic diagnosis was enabled by computerized tomography.

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Regional odontodysplasia (RO) is a rare disorder of dental development. The affected teeth are clinically hypoplastic and hypocalcified, presenting a ghost-like appearance radiographically. The aim of this work was to report a clinical case of a child with both primary and permanent dentition affected by RO. The conducted therapy was based on a conservative approach, which consisted of follow-up clinical evaluations of the anomalous teeth. However, the endodontic treatment of the primary incisors failed. Then, the chosen option for patient rehabilitation became extraction followed by removable of prosthesis confection. The extracted teeth were processed for histological analysis. In spite of the uncertain prognosis, but taking into account the psychological aspects of the patient, a conservative approach in an attempt to maintain those viable teeth in the oral cavity should be established.

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Introduction. Incontinentia pigmenti or Bloch-Sulzberger syndrome is a rare X-linked dominant disease that mainly affects the skin, eyes, hair, central nervous system and teeth. The disease is predominant among women. Although dermatologic manifestations are among the most important aspects for the diagnosis of the syndrome, they are less damaging to the patient and do not require treatment. However, oral involvement characterized by hypodontia of deciduous and permanent teeth is important for the diagnosis and treatment of the patient. Case presentation. We report the case of a 3-year-old girl with ophthalmologic and neurologic disturbances, cutaneous manifestations and hypodontia. Since the patient did not present more damaging manifestations such as neurologic and/or ophthalmologic problems, her most severe complications were related to dental anomalies. The importance of integrated dental treatment, which combines pediatric dentistry, orthodontics and conventional prosthesis, is emphasized. Conclusion. Hypodontia is a frequent finding in incontinentia pigmenti, and dentists should be aware of this condition in order to help with the diagnosis. © 2009 Kitakawa et al; licensee BioMed Central Ltd.