Johanson–Blizzard syndrome—A case study of oral and systemic manifestations

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• 作者：Keila Martha Amorim Barroso ; Debora Farias Batista Leite ; Pollianna Muniz Alves ; Paula Frassinetti Vasconcelos de Medeiros ; Gustavo Pina Godoy
• 关键词：Johanson– ; Blizzard syndrome ; Oral manifestations ; Abnormalities
• 刊名：International Journal of Pediatric Otorhinolaryngology Extra
• 出版年：2010
• 出版时间：December 2010
• 年：2010
• 卷：5
• 期：4
• 页码：180-182
• 全文大小：664 K

文摘

Johanson–Blizzard syndrome is a hereditary disorder extremely rare. The characteristic features include aplastic alae nasi, midline ectodermal scalp defects, deafness, dental abnormalities and malabsorption related to pancreatic exocrine deficiency. This paper presents a case of an 18-year-old patient with Johanson–Blizzard syndrome and emphasizes the importance of knowledge of the potential anaesthetic concerns of this syndrome for providing appropriate treatment for these patients.