Bütow Kurt-W, Morkel Jean A, Naidoo Sharan, Zwahlen Roger Arthur
Department of Maxillofacial and Oral Surgery, Facial Cleft Deformity Clinic, University of Pretoria, Durban, South Africa; Suite A2-Maxillofacial Surgery, The Wilgers Hospital, Pretoria, Durban, South Africa; Department of Maxillofacial Surgery, Division of Dentistry, College of Health Sciences, University of KwaZulu-Natal, Durban, South Africa.
Department Maxillofacial and Oral Surgery, University of the Western Cape, Cape Town, South Africa.
Ann Maxillofac Surg. 2016 Jan-Jun;6(1):35-7. doi: 10.4103/2231-0746.186134.
The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in the scientific literature, relating to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the early management.
AIMS OF PART 2: Contribute to the sparse scientific knowledge about pathogenesis and involved genetics.
An analysis of this large database was conducted focusing on genetic involvement, family history, and the incidence of additional syndromes.
Beside of differences related to clinical signs of dyspnea, feeding problems and mortality rates, various concomitant syndromes, and genetic abnormalities were found in cases of Fairbairn-Robin triad (FRT) and Siebold-Robin sequence (SRS), in addition to differences in relation to clinical signs of dyspnea, feeding problems, and mortality rates.
Multiple FRT cases presented with various concomitant syndromes and genetic abnormalities, but only one type occurred in two SRS cases. The latter presented a significantly different mortality rate when compared to the FRT subgroup.
目前被认定为皮埃尔·罗宾综合征/异常/序列（PRS）的病症自最初被描述以来就一直饱受争议。争议不仅存在于该病症的恰当术语和病因发病机制方面，还涉及到其治疗管理。将一个包含266例PRS病例的大型数据库的临床发现和治疗结果与科学文献中的现有知识状态进行了比较，内容涉及病史、临床描述、诊断标准、流行病学、羊水过少理论、下颌追赶生长、面中部增生以及早期管理。
为关于发病机制和相关遗传学的稀少科学知识做出贡献。
对这个大型数据库进行了分析，重点关注基因参与情况、家族史以及其他综合征的发病率。
除了在呼吸急促、喂养问题和死亡率的临床体征方面存在差异外，在费尔贝恩 - 罗宾三联征（FRT）和西博尔德 - 罗宾序列（SRS）病例中还发现了各种伴随综合征和基因异常。
多个FRT病例呈现出各种伴随综合征和基因异常，但在两个SRS病例中仅出现了一种类型。与FRT亚组相比，后者的死亡率有显著差异。
