1 resultado para Cataloging of technical literature.
em Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP)
Filtro por publicador
- Aberdeen University (2)
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- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP) (1)
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- Bulgarian Digital Mathematics Library at IMI-BAS (1)
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- Cochin University of Science & Technology (CUSAT), India (1)
- Comissão Econômica para a América Latina e o Caribe (CEPAL) (29)
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- Greenwich Academic Literature Archive - UK (3)
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- University of Connecticut - USA (2)
- University of Michigan (353)
- University of Queensland eSpace - Australia (16)
- Worcester Research and Publications - Worcester Research and Publications - UK (1)
Resumo:
Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive end autosomal dominant inheritance have been reported. In this study, we describe the clinical aspects of nine familial cases with evidence of autosomal dominant inheritance and compare them with reports in the literature. Interfamilial and intrafamilial clinical variabilities were observed in this study (reinforcing the necessity of careful examination of familial members). We suggest that oculoauriculovertebral spectrum with autosomal dominant inheritance is characterized mainly by bilateral auricular involvement and rarely presents extracranial anomalies. Clin Dysmorphol 18:67-77 (C) 2009 Wolters Kluwer Health | Lippincott Williams & Wilkins.