845 resultados para craniofacial malformation


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It is well known that radiation causes mutation, and that mutations are generally deleterious. They can lead to disease, malformation and death. It is further known that we live in a radioactive world. The air, the soil, the water, the food, all are somewhat radioactive. Natural radiation is not uniformly distributed throughout the earth's crust. There are some areas, especially in Brazil and India, where the levels of background radiation are several times higher than generally obtains. We have undertaken a specially prepared house-to-house genetic-epidemiologic, retrospective survey in a large Brazilian area with levels of natural radiation ranging from 7 (normal) to 133 (high) micro-roentgens per hour. In all, 24 different localities were surveyed during a period of 10 months by a trained team of nurses and social assistants. Our total sample consists of more than 8,000 couples who have had almost 44,000 pregnancy terminations. Our results do not disprove that natural radiation is one of the causes of socalled spontaneous mutations. They only show that, under the conditions of this study, no detectable effect on abortion was found. Our results also attest to the importance of extraneous variables in the analysis of morbidity and mortality data.

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Taurodontism does not involve molar teeth exclusively. To call attention to the occurrence of this phenomenon in premolars, 4,459 extracted mandibular and maxillary premolars were examined. Eleven showed evidence of taurodontism. Roentgenograms taken from a buccolingual direction confirmed the diagnosis of taurodont teeth.

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We report on five Brazilian patients from three unrelated families with congenital anomalies of the upper limbs. Ulnar aplasia/hypoplasia was the main reason for examining these patients. Evidence for existence of an ulnar developmental field is based on genetic heterogeneity. Clinical and genetic aspects of the ulnar ray defects are discussed.

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We report on a Brazilian child with typical manifestations of the FG syndrome. Pigmentary dysplasia, metacarpal fusion and peculiar anatomopathological findings are additional undescribed signs.

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An interstitial deletion of 7q21 was found in a boy with mental retardation, microcephaly, convergent strabismus, micrognathia, genital anomalies, and other findings, including ectrodactyly.

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The authors studied 201 school children form both sexes, aging 12 to 14 years, in order to identify anodontia, including in third molars. The results indicated a congenital absence of teeth in 24.37% of the examined children, distributed into 10.44% of boys and 13.93% of girls. Anodontia was observed concerning third molar teeth and other teeth, and the correlation was calculated by the total, sex, and hemiarch. The data were presented and discussed, and the results included several conclusions.

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In a sample of Brazilian white young adults between 18-23 years old, the A.A. studied the third molar roots, in anatomical aspects, using the orthopantomographic radiographic method. They concluded that the superior third molar shows a biggest number of fusionated roots (19.50% in the right side and 19.66% in the left side) and the inferior third molar shows a biggest number of separated roots (21.48% in the right side and 19.66% in the left side).

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A syndrome--incontinentia pigmenti--of probable genetic etiology, is discussed and a new case report presented. The syndrome presents systemic and dental manifestations, which are separate although similar to those found in other disease entities, i.e., congenital syphilis, hereditary ectodermal dysplasia.

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Craniofacial pain is a frequent challenge for the physician anamnesis with the goal to obtain specific and useful information about symptoms in craniofacial pain. It can be improved by identifying aching points. In the article, the authors present a practical and specific schedule for physical examination to be applied in patients with chronic pain. This specific schedule, which has proved useful in detecting the exact anatomic sites of pain, has a sequence ordered which includes palpation and inspection of muscles, nerves and arteries.

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We present our clinical experience in cranioplasty with autograft as follows: conchal cartilage for losses up to 2 cm2, outer table grafts for defects up to 100 cm2, and, for larger defects still, split rib grafts, which may be combined with outer table grafts. We conclude that autograft is superior to alloplastic material in cranioplasty.

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This case required anteroposterior traction of the maxilla. Once none of the traditional methods could be used because of the lack of support in the chin and in the frontal region. Thus, we opted to use a cervical collar.

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The case of a six-day-old neonate admitted in an emergency situation because of dyspnea and increasing cyanosis is reported. Despite abnormal opacification on the chest X-ray and left ventricular overload on the electrocardiogram and echocardiogram, features compatible with the disease, the diagnosis of massive pulmonary arteriovenous fistula affecting the whole left superior lobe, was made possible only after necroscopic examination.

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The natal teeth are defined as the presence of teeth at birth and the etiology is rather obscure. Clinically, the teeth show normal size and shape, although they reveal an immature appearance. The histological aspect show enamel with the possibility of presenting normal mineralization or being hypoplastic. The dentin may show alterations. The incidence of natal teeth varies greatly, with a predisposition for the female sex. This paper relates a case report of two partially erupted natal teeth in a female baby 9 days-old. The presence of teeth made the parents anxious. In their mind, that meant the child was abnormal. On the radiograph the erupted teeth showed little radioopacity, without a radicular formation. The therapy utilized was the keeping of the teeth and a periodic monitoring, cleaning and daily topical applications sodium fluoride. The case was monitored by monthly consultations. At 9 months of age the primary central lower did not present mobility. On the radiograph examination incomplete radicular formation was observed.

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The authors present a case of constriction band syndrome in a 20-year-old male. There were constriction rings in the interphalangeal joints of hands and in the thigh, shortening of the lower limb and atrophic left gastrocnemius muscle. These findings belong to the described syndrome, which is uncommon and has no genetic implication. Personal antecedent: convulsive syndrome and corrective surgery for congenital bent foot.