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Báo cáo y học: "The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies – Phenotypic and Aetiologica"

Tuyển tập các báo cáo nghiên cứu khoa học ngành y học tạp chí Medical Sciences dành cho các bạn sinh viên ngành y tham khảo đề tài: The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies – Phenotypic and Aetiological . | Int. J. Med. Sci. 2004 1 1 34-42 34 International Journal of Medical Sciences ISSN 1449-1907 www.medsci.org 2004 1 1 34-42 2004 Ivyspring International Publisher. All rights reserved Case report Received 2004.2.16 Accepted 2004.3.03 Published 2004.3.10 The Syndrome of Frontonasal Dysplasia Callosal Agenesis Basal Encephalocele and Eye Anomalies -Phenotypic and Aetiological Considerations Antonio Richieri-Costa and Maria Leine Guion-Almeida Hospital de Reabilitaẹão de Anomalias Craniofaciais Universidade de São Paulo Bauru-SP Brasil Abstract We report ten sporadic cases of Brazilian patients with facial midline defects callosal agenesis basal encephalocele and ocular anomalies. This very rare cluster of anomalies has been well reported before. However only until recently it is recognized as a syndrome belonging to frontonasal dysplasia spectrum. The ten cases confirm a distinct clinical entity and help to define the phenotype more precisely than previously. Up to now etiology remains unknown although we conjecture that it is due to a mutation in TGIF gene. Key words Morning glory syndrome frontonasal dysplasia CNS midline anomalies Author biography Antonio Richieri-Costa is a clinical geneticist at the HRAC-USP. His current research includes genetics in craniofacial malformations. Maria Leine Guion-Almeida is a clinical geneticist at the HRAC-USP. Her current research includes genetics in craniofacial malformations. Corresponding address Antonio Richieri-Costa MD Hospital de Reabilitaẹão de Anomalias Craniofaciais Universidade de São Paulo Rua Silvio Marchione 3-20 CEP 17012-230 SP Bauru Brasil. Phone Int 55 14 3235 8183. Fax Int 55 14 3234 7818. Email richieri@usp.br Int. J. Med. Sci. 2004 1 1 34-42 35 1. Introdution Frontonasal dysplasia FND is the hallmark of several syndromes involving the frontonasal process that includes isolated frontonasal dysplasia MIM 136760 and 305645 acrofrontofacionasal dysostosis 1 MIM 201180 acrofrontofacionasal dysostosis 2 MIM .