Síndrome de Rubinstein-Taybi: anomalias físicas, manifestações clínicas e avaliação auditiva

INTRODUÇÃO: A Síndrome de Rubinstein-Taybi foi descrita pela primeira vez em 1963, após a observação dos traços físicos semelhantes apresentados por sete crianças com retardo mental, baixa estatura, polegares grandes e largos e anomalias faciais. Mais tarde, novas publicações definiram outras características dessa síndrome, a qual incide em 1 a cada 300.000 nascidos e apresenta etiologia incerta. Sintomas otorrinolaringológicos e fonoaudiológicos são freqüentes, daí a importância de melhor conhecimento dessa síndrome por esses especialistas. RELATO DE CASO: Apresentamos as principais manifestações clínicas, traços físicos e as avaliações auditivas de cinco crianças portadoras da Síndrome de Rubinstein-Taybi, em atendimento na Faculdade de Medicina de Botucatu (UNESP). Para as avaliações auditivas foram realizados exames de audiometria tonal, imitanciometria e potenciais evocados do tronco encefálico (BERA). As principais características observadas foram: retardo mental, baixa estatura, polegares largos, pirâmide nasal alta, palato ogival, má oclusão dentária, atraso no desenvolvimento neuropsicomotor e de linguagem. DISCUSSÃO: Os traços físicos característicos dos portadores dessa síndrome facilitam o diagnóstico, e muitos deles são responsáveis por sintomas otorrinolaringológicos e fonoaudiológicos, como infeções de vias aéreas superiores, obstrução nasal, otites médias, hipertrofia adenoamigdaliana, surdez condutiva, hipotonia perioral e disfagia. O importante comprometimento cognitivo é responsável pelo atraso no desenvolvimento da linguagem e pelo baixo rendimento escolar. CONCLUSÕES: Frente às várias manifestações otorrinolaringológicas e fonoaudiológicas apresentadas pelas crianças portadoras da Síndrome de Rubinstein-Taybi, torna-se necessário que esses especialistas conheçam melhor essa síndrome para que possam fazer o diagnóstico precoce e orientar o tratamento dessas crianças.

A influência da redução do espaço nasofaringeano na morfologia facial de pré-adolescentes

A redução do espaço nasofaringeano devido à hipertrofia adenoideana leva a adaptações posturais da cabeça, mandíbula, língua e lábios, podendo causar alterações no padrão esquelético facial. Foram coletadas 98 teleradiografias em norma lateral de pré-adolescentes na faixa etária de 7 a 10 anos na Clínica de Ortodontia da F.O. Araraquara, as quais foram selecionadas levando-se em consideração a dimensão da imagem do espaço nasofaringeano (ENF) (correspondente à menor distância do dorso do palato mole à parede faringeana posterior). As radiografias foram divididas em 3 grupos: Grupo I (estreito), ENF entre 1,7 e 5,1mm; Grupo II (médio), ENF entre 5,2 e 7,6mm; Grupo III (amplo), ENF entre 7,7 e 12,9mm. Utilizamos duas medidas angulares e seis medidas lineares para caracterizar a morfologia facial. As médias e o desvio padrão de cada medida efetuada foram obtidas, e por meio de teste de análise de variância (ANOVA), verificou-se diferença não significativa entre os grupos para as variáveis: ANperp, p=0,07; PgNperp, p=0,058, comprimento mandibular, p=0,15, comprimento maxilar, p=0,06, diferença maxilomandibular, p=0,98, eixo facial, p=0,96, altura facial inferior, p=0,84 e significativa na variável plano mandibular (p<0,01). Portanto, a redução do espaço nasofaringeano está associada a alterações no plano mandibular, que apresentou valores maiores com a diminuição do espaço nasofaringeano.

Muscular, functional and orthodontic changes in pre school children with enlarged adenoids and tonsils

Introduction: Hypertrophy of the adenoids and palatine tonsils is the second most frequent cause of upper respiratory obstruction and, consequently, mouth breathing in children. Prolonged mouth breathing leads to muscular and postural alterations which, in turn, cause dentosketetal changes. Objective: the aim of this study was to determine muscular, functional and dentoskeletal alterations in children aged 3-6 years. Materials and methods: Seventy-three children, including 44 with tonsil hypertrophy and 29 controls, were submitted to otorhinolaryngologic, speech pathologic and orthodontic assessment. Results: Otorhinolaryngologic evaluation revealed a higher incidence of nasal obstruction, snoring, mouth breathing, apneas, nocturnal hypersalivation, itchy nose, repeated tonsillitis and bruxism in children with tonsils hypertrophy. Speech pathologic assessment showed a higher incidence of open lip and lower tongue position, and of hypotonia of the upper and lower lips, tongue and buccinator muscle in these children, accompanied by important impairment in mastication and deglutition. Orthodontic evaluation demonstrated a higher incidence of lower mandible position in relation to the cranial base, a reduction in lower posterior facial height, transverse atresia of the palate, and a dolicofacial pattern. Conclusion: Postural and functional alterations anticipate dentoskeletal changes, except for the facial pattern. Postural alterations and the skeletal pattern seem to play an important role in infant dentofacial growth. (C) 2003 Elsevier B.V. Ireland Ltd. All rights reserved.

Light and scanning electron microscopic study of the palatine mucosa of nine-banded armadillo (Dasypus novemcinctus)

The three-dimensional structure of the lamina propria of the hard and soft palatine mucosa of the nine-banded armadillo was observed by scanning electron microscopy. Sodium hydroxide cell maceration method was applied to demonstrate the architecture of the connective tissue papillae. The palatine mucosa of the armadillo had a triangular shape and measured appr. 6.5 cm length. The hard palate showed 9 transverse palatine plicae while the soft palate was smooth. In the 10% NaOH treated specimens, the lamina propria of the hard palatine mucosa showed numerous connective tissue papillae with a general finger-like shape. These structures were composed by a meshwork of collagen fibers arranged in several directions. on the other hand, the connective tissue papillae of the soft palate mucosa were scattered and small. Numerous openings of glandular ducts with circular or elliptical shape were located in the interplicae area and in the soft palate.

Floral development and embryology in the early-divergent grass Pharus

A detailed study of floral ontogeny, anatomy, and embryology in two (of six) species of Pharus is presented as part of a series of comparative investigations on early-divergent grasses. Pharus is a taxonomically isolated genus belonging to the earliest-diverging grass lineage with a true grass spikelet. It is unusual in possessing remarkably dimorphic florets: male florets possess two lodicules, six stamens, and a pistillode, whereas female florets lack lodicules entirely but possess six staminodes and a tricarpellary ovary with three stigmas. The rudimentary lodicules in male florets are initiated after the stamen whorls. There are most commonly six androecial organs, but in some florets, a five-staminate condition was observed, resulting from suppression of the abaxial stamen from the inner whorl, or even a four-staminate condition resulting from subsequent fusion of the two adaxial outer stamens (i.e., elements of both whorls). Thus, the pattern of floral zygomorphy in Pharus differs from that of many other grasses. Centrifixed anther attachment is reported for the first time in Pharus, resembling the condition in another early-divergent grass, Anomochloa, though anthers are introrse in Anomochloa compared with latrorse in Pharus. Anther wall development is of the reduced type in Pharus, in contrast to most other monocots. Microsporogenesis is of the successive type, as in many other monocots. The ovary develops from three distinct primordia and is unilocular with a single ovule and a pronounced ovary beak that is highly characteristic of Pharus. There is a hollow style, in contrast to the solid styles that are common in many other grasses. The embryo is highly differentiated, as in other grasses, with a distinct epiblast and a small cleft between the scutellum and the coleorhiza.

Oral paracoccidioidomycosis: a study of 36 South American patients

Paracoccidioidomycosis (South American blastomycosis) is an uncommon, progressive systemic mycosis, virtually only seen in persons who have visited Latin America. Reports of oral lesions are extremely rare in the English-language literature. Thirty-six adults with oral lesions as the first sign of paracoccidioidomycosis are described; this appears to be the largest series in the dental literature. All had chronic proliferative mulberry-like ulcerated oral lesions; the diagnosis was confirmed histologically. The gingiva or alveolar process was the typical site, but lesions were also seen particularly on the palate and lip. Most of the patients proved to have detectable pulmonary involvement. Patients with lesions in the oropharynx, tongue, or floor of mouth all had confirmed pulmonary lesions.

Morphological and anatomical observations about Mariliasuchus amarali and Notosuchus terrestris (Mesoeucrocodylia) and their relationships with other South American notosuchians.

The phylogenetic relationship of the notosuchians Mariliasuchus amarali (Campanian; Bauru Group) and Notosuchus terrestris (Santonian; Neuquen Group) is revised. Morpho-anatomical evaluation of Mariliasuchus in the current bibliography indicate close relationship with Notosuchus, while cladistic analysis either related Mariliasuchus to Candidodon itapecuruense (Albian/eo-Cenomanian; Sao Luis-Grajau Basin), as part of the phylotaxon Candidodontidae, or to Comahuesuchus brachybuccalis (Santonian; Neuquen Group). Comparative study of specimens shows similarities on the palate, choanae, dentition, retroarticular process, and other structures from Mariliasuchus and Notosuchus supporting the original classification as a Notosuchidae. Preliminary phylogenetic analysis sets these taxa as sister-groups. Reevaluation of a previously published phylogenetic analysis from other authors provides further support for the Mariliasuchus + Notosuchus clade. The current work indicates that Mariliasuchus is a Notosuchidae, refuting its allocation as a Candidodontidae. The influence of character construction and the definition of Notosuchia are discussed.

Congenital deformity of the paw in a captive tiger: case report

Background: The aim of this report was to describe the clinical signs, diagnostic approach, treatment and outcome in the case of a tiger with a deformity of the paw.Case presentation: A 1.5-year-old tiger (Panthera tigris) was presented with lameness of the left thoracic limb. A deformity involving the first and second metacarpal bones, and a soft tissue separation between the second and third metacarpal bones of the left front paw were observed. The second digit constantly struck the ground during locomotion. Based on the physical and radiographic evaluations, a diagnosis of ectrodactyly was made. A soft tissue reconstruction of the cleft with excision of both the second digit and distal portion of the second metacarpal bone was performed. Marked improvement of the locomotion was observed after surgical treatment, although the tiger showed a low degree of lameness probably associated with the discrepancy in length between the thoracic limbs.Conclusion: This report shows a rare deformity in an exotic feline that it is compatible to ectrodactyly. Reconstructive surgery of the cleft resulted in significant improvement of limb function.

Morphology and incidence of torus palatinus and mandibularis in Brazilian Indians

The incidence and morphology of torus platinus and mandibularis was verified in 200 Indians, residents of two Brazilian Indian Reserves in Sao Paulo State, Brazil. A low incidence of both types of exostoses was observed, with torus palatinus occurring more frequently than mandibularis. These structures did not occur in individuals less than 10 years of age. Flattened torus palatinus predominated in relation to the other forms.

Estudo histológico comparativo da mucosa palatina em pacientes portadores e não portadores de próteses totais antes e após a instalação de novas proteses.

The authors verified histologically in 20 no dentates patients, the influence of complete dentures on the hard palate mucosa. The patients were divided in two groups: I. Patients that never used complete dentures; II. Patients that were using complete dentures when this research was realized. New prosthesis were made for each one of the 20 patients. Immediately before they received the new prosthesis and ninety days after this, biopsies were realized. The circunferencial pieces of the hard palate mucosa were fixed in formol 10% and coloured with Hematoxylin/Eosin and Mallory's Tricomic for histomorphologic analysis and measuring of the stratum corneum of the epithelium. It was made the statistical analysis and the results showed that: 1. In normal conditions, the utilization of the full dentures produces the reduce of the thickness of the stratum corneum. This was more observed in Group I. 2. The range difference of the thickness of the stratum corneum between the first and the second biopsies in the groups I and II (4.86 microns and 2.18 microns) were not statistically significant. 3. With the use of complete dentures the stratum corneum of the epithelium showed tendence to parakeratinization.

Emprego da imunofluorescência direta no estudo das alterações de mucosa de palato, compatíveis com candidíase atrófica crônica, em indivíduos portadores de próteses dentárias totais muco-suportadas.

Histopathology by hematoxilin-eosin (HE) and periodic acid Schiff (PAS), concomitant direct immunofluorescence (DI) against total human immunoglobulins and against Candida albicans, was effectuated in 25 persons dentures wearers. In 5 persons without chronic athrofic candidiasis (CAC) clinical signals in the palate the HE showed wise inflammatory elements in the connective tissue and the PAS marked the continuous basal layer, the intra-cellular grains of granular layer and the uniform parakeratin on epithelial surface. In 20 others, with palatal signals of CAC, in the HE was frequent the features encountered in Candida infected and PAS revealed, beside descontinuous lamina basal and epithelial surface covered by tide and discontinuous parakeratin, the presence of round bodies few largers that presents in the granular layer, casually isolated in the medial portion of ret pegs and connective papillae. In the first 5 persons the DI against total human immunoglobulins not showed signals of the humoral immunologic phenomena, the same was valid to others 20 patients with CAC clinical aspects. However the DI with conjugate against C. albicans in the 20 cases with CAC signals revealed suitable aspects of the structures assumed by Candida in tissues. Cultures of samples obtained of the persons with CAC signals was positive in 100% to Candida, 70% presumptively albicans, against 80% of positiviness to generus Candida, 67% presumptively albicans, in the persons without CAC signals.

The oral blue nevus in children: a case report.

The intraoral blue nevus is a benign, relatively rare lesion that usually occurs in adults and most often in women. The reported case is interesting because the patient was only 11 years old. The lesion, located in the hard palate, was surgically removed. The specimen was sent for histologic examination, resulting in the final diagnosis of common blue nevus.

ASPECTOS ETIOLOGICOS DA HIPERNASALIDADE CONSEQUENTE A PARALISIA DE PALATO MOLE - RELATO DE 6 CASOS

The authors studied the main aspects of etiology of the palate paralysis in six children suffering from soft palate paralysis. They emphasized the importance of multidisciplinary approach in the management of patients with this disease. In the author's cases the most likely etiologies were: neuropathy post-viral epidemic parotitis, tumors localized in the posterior cerebral fossa and idiopathic. They concluded that it is extremely important in these patients a detailed otorhinolaryngologic, neurologic and fonoaudiologic examinations.

Morphological aspects of the mid-palatal suture in the human foetus: A light and scanning electron microscopy study

Morphological features of the mid-palatal suture were studied in human foetuses from 4 to 9 months of intra-uterine life. The foetuses were divided into three age groups, GI (16-23 weeks), GII (24-31 weeks) and GIII (32-39 weeks). The mid-palatal suture in GI foetuses is rectilineal in form with a wide space between the palatal processes of the maxilla. The suture has a sinuous nature in GII and GIII foetuses due to growth of the bone processes crossing the mid-line. A wide zone of cellular proliferation observed in GI narrows in GII and GIII foetuses. The imbricating nature of the suture in GII and GIII is caused by bone growth adjacent to the mid-palatal suture. Sharpey's fibres, emerging from the bone processes, run to the median region of the mid-palatal suture and are observed from GI foetuses onwards. The collagen fibres of the mid-palatal suture are orientated transversely under the oral epithelium and exhibit a regular meshwork with a predominance of sagittal fibres in the median region of the suture. These fibres are orientated transversely and obliquely at the junction with the nasal septum.