Rustemeyer J, Günther L, Krause H R, Petersen S, Thieme V, Bremerich A
Klinik für Mund-, Kiefer- und Gesichtschirurgie, Zentralkrankenhaus, Bremen.
Mund Kiefer Gesichtschir. 2000 Sep;4(5):274-7. doi: 10.1007/s100060000222.
Retrospective studies of cleft lip and palate patients suggest a multifactorial aetiology for this condition. Many patients exhibit multiple defects, often removed from the orofacial region. The frequency and location of such coexistent abnormalities vary between studies.
A retrospective case-note study of 1,737 individuals with orofacial cleft, treated between 1974 and 1998 at our centre, was undertaken to assess the frequency of associated malformations and syndromes.
Associated malformations were found to be present in 33% of all cases investigated. In nearly one half of these individuals (48%), defects could be attributed to recognisable syndromes. Patients with isolated palatal clefts (45.6%) and those with bilateral clefts of the lip and palate (35.3%) were particularly well-represented. The following problems were observed relatively frequently: Cerebral anomalies (16%), facial anomalies (14%), heart malformations (15%), anomalies of the extremities (9%) and urogenital tract abnormalities (8%). In contrast, endocrine aberrations were identified sporadically (0.5%). A partial situs inversus was found only in one case.
As clefts of the lip and palate are frequently associated with additional malformations, the importance of thorough interdisciplinary neonatal screening cannot be over emphasised.
唇腭裂患者的回顾性研究表明,这种疾病的病因是多因素的。许多患者表现出多种缺陷,这些缺陷往往远离口面部区域。不同研究中此类共存异常的频率和位置各不相同。
对1974年至1998年在我们中心接受治疗的1737例口面部裂患者进行回顾性病例记录研究,以评估相关畸形和综合征的发生率。
在所有调查病例中,33%存在相关畸形。在这些患者中,近一半(48%)的缺陷可归因于可识别的综合征。孤立性腭裂患者(45.6%)和双侧唇腭裂患者(35.3%)的比例尤其高。相对常见的问题如下:脑异常(16%)、面部异常(14%)、心脏畸形(15%)、四肢异常(9%)和泌尿生殖道异常(8%)。相比之下,内分泌异常很少见(0.5%)。仅在1例中发现部分内脏反位。
由于唇腭裂常与其他畸形相关,全面的跨学科新生儿筛查的重要性再怎么强调也不为过。