Otodental syndrome

The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves). The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary

Molecular and cellular mechanisms underlying the evolution of form and function in the amniote jaw.

The amniote jaw complex is a remarkable amalgamation of derivatives from distinct embryonic cell lineages. During development, the cells in these lineages experience concerted movements, migrations, and signaling interactions that take them from their initial origins to their final destinations and imbue their derivatives with aspects of form including their axial orientation, anatomical identity, size, and shape. Perturbations along the way can produce defects and disease, but also generate the variation necessary for jaw evolution and adaptation. We focus on molecular and cellular mechanisms that regulate form in the amniote jaw complex, and that enable structural and functional integration. Special emphasis is placed on the role of cranial neural crest mesenchyme (NCM) during the species-specific patterning of bone, cartilage, tendon, muscle, and other jaw tissues. We also address the effects of biomechanical forces during jaw development and discuss ways in which certain molecular and cellular responses add adaptive and evolutionary plasticity to jaw morphology. Overall, we highlight how variation in molecular and cellular programs can promote the phenomenal diversity and functional morphology achieved during amniote jaw evolution or lead to the range of jaw defects and disease that affect the human condition

TARJETA POSTAL NAVIDEÑA [Material gráfico]

ITALIACopia digital. Madrid : Ministerio de Educación, Cultura y Deporte, 201

Displasia craniometafisária: relato de caso Craniometaphyseal dysplasia: case report

Apresentamos um caso de uma criança com dois anos e oito meses de idade,acometida pela forma recessiva da displasia craniometafisária. São enfatizados os achados clínico-radiológicos, bem como seus principais diagnósticos diferenciais, baseados em dados de breve revisão literária.<br>We report a case of a 2 years and 8 months-old child with the recessive form of craniometaphyseal dysplasia. Clinical and radiological features as well as the main differential diagnosis are discussed and compared with data from a brief literature review

Perfil audiológico de indivíduos portadores da síndrome de Goldenhar Audiology profile in patients with Goldenhar's syndrome

A síndrome de Goldenhar é uma anomalia congênita rara, de etiologia ainda desconhecida e caracterizada por uma tríade clássica de alterações oculares, auriculares e vertebrais. FORMA DE ESTUDO: Estudo de série. MATERIAL E MÉTODO: Este trabalho foi realizado com 30 indivíduos portadores da síndrome de Goldenhar regularmente matriculados no HRAC, de ambos os gêneros, com faixa etária variando de 8 a 34 anos de idade. OBJETIVO: foi caracterizar o perfil audiológico dos indivíduos portadores dessa síndrome, garantindo assim um melhor tratamento e orientação para os mesmos, assim como também estabelecer a freqüência do comprometimento auditivo contralateral nos indivíduos com o clássico envolvimento unilateral. A avaliação audiológica do estudo constou de ATL, timpanometria, EOA-T e BERA. RESULTADO: De acordo com os resultados concluímos que 34% (=10) dos indivíduos apresentaram como característica de seu perfil audiológico perda auditiva do tipo sensório-neural mista com grau variando de moderado a profundo (7 uni e 3 bilaterais); 13% (n=4) apresentaram perda do tipo condutiva (bilateralmente) com grau de leve a severo e 3% (n=1) apresentaram ou perda do tipo sensório-neural profundo unilateral. Encontramos 40% (n=12) com audição normal bilateralmente e em 10% (n=3) não foi possível estabelecer a característica do perfil audiológico por utilizarmos como avaliação apenas o BERA como pesquisa de limiar eletrofisiológico. Dos doze (12) indivíduos com malformação de OE unilateral encontramos apenas dois (02) com comprometimento auditivo na orelha contralateral, sendo um do tipo misto de grau severo e um condutivo de grau moderado. Com relação a variável sexo encontramos predominância maior da síndrome de Goldenhar no gênero feminino (57%) do que no masculino (43%), mas considerado estatisticamente sem significância, assim como também o lado anatomicamente afetado, que foi predominantemente o direito.<br>The Goldenhar's syndrome is a rare congenital anomaly, of which the etiology is yet unknown, and characterized by a classical triad of ocular, auricular and vertebral abnormalities. FORMA DE ESTUDO: Serie report. MATERIAL AND METHOD: This study used 30 individuals presenting Goldenhar's syndrome, that were regularly enrolled in the Craniofacial Anomaly Rehabilitation Hospital (HRAC), of both sexes, varying from 8 to 34 years old. AIM: The goal was to characterize the audiologic profile to the individuals presenting this syndrome, thus, assuring a better treatment and orientation for them, and also the establishment of the frequency of contra-lateral auditory commitment in individual with the classical unilateral involvement. RESULTS: The auditory assessment of this study showed ATL, tympanometry, EOA-T and BERA. According to the results, we concluded that 35% (N=10) of the individuals presented, as a characteristic of the audiologic profile, loss of hearing type sensorioneural, mixed with varied levels from moderate to deep (7 uni and 3 bilateral); 13% (n=4) presented conductive loss (bilaterally) with levels mild to severe and 3% (n=1) presented a unilateral deep type of sensorioneural loss. This study showed 40% n=12) with normal bilateral hearing and in 10% (n=3) it wasn't possible to establish the characteristic of the audiologic profile, since only the BERA was used as an assessment tool for establishing the electro-physiologic threshold. Of the twelve (12) individuals presenting unilateral malformations of the left ear, only two (02) presented contra-lateral auditory commitment of the ear, one type mixed with a severe level and one conductive of a moderate level. Considering the sex variable, the mayor predominance of the Goldenhar's syndrome was for females (57%) compared to the males (43%), but these results weren't statistically significant, as well as for the unaffected anatomical side, that was predominantly the right side