皮埃尔-罗宾综合征
混乱
医学
序列(生物学)
儿科
精神分析
心理学
生物
遗传学
作者
Corstiaan C. Breugem,Aebele B. Mink van der Molen
标识
DOI:10.1016/j.bjps.2008.06.050
摘要
Different nosology has hampered our understanding of patients with Robin sequence. Defining this disorder correctly has important consequences for physicians and parents. While reviewing treatment options for Robin sequence we were surprised to see how often different definitions were used to describe this condition. This prompted us to perform a review into the current understanding when diagnosing and defining this disorder. At our Annual Dutch Cleft Palate Meeting a questionnaire was given to all those attending requesting them to summarise characteristics needed for a definition of 'Robin sequence'. Sixty-six questionnaires were returned, demonstrating 29 different descriptions. Our study demonstrates that there is widespread confusion in the Netherlands defining Robin sequence. This lack of uniformity in the definition hampers the comparison of outcome studies. The treatment of patients with Robin sequence often involves multidisciplinary involvement, making it crucial to have one common definition. We suggest using the description originally summarised by Pierre Robin consisting of micrognathia, glossoptosis and airway compromise. Once the diagnosis of Robin sequence is made other adjuncts such as an associated cleft palate, syndrome or feeding problems could be added to the description.
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