Mueller A A, Sader R, Honigmann K, Zeilhofer H-F, Schwenzer-Zimmerer K
Clinic for Reconstructive Surgery, Division of Cranio-Maxillofacial Surgery, University Hospital Basel, Spitalstrasse 21, CH-4031 Basel, Switzerland.
Int J Oral Maxillofac Surg. 2007 Apr;36(4):289-95. doi: 10.1016/j.ijom.2006.10.018. Epub 2007 Jan 24.
Children with cleft lip and/or cleft palate (CLP) often have additional congenital malformations. The reported incidences are variable and presumed underlying mechanisms are rarely discussed. In this study, 245 CLP patients of a geographically defined population were retrospectively reviewed for additional major malformations and minor anomalies. Malformation incidences in the CLP population were compared to those in a literature-based cohort from the general population. Of the CLP patients, 21% showed either major malformations or minor anomalies. In one-fifth of them a recognized syndrome was identified. Two thirds of the CLP patients with minor anomalies also had major malformations. Major malformations in non-syndromic CLP patients were found with decreasing frequency in the musculoskeletal (5.1%), central nervous (4.2%), urogenital (3.8%) and cardiovascular (3.4%) systems. Malformations in these organ systems and minor anomalies should be ruled out by a specialist. The rise in malformation incidence, when compared to the general population, was highest for organs of ectodermal and ecto-mesodermal origin: central nervous system (13 times), ocular (7 times) and craniofacial system (7 times). The result reflects the close interplay of craniofacial and brain development.
唇腭裂（CLP）患儿常伴有其他先天性畸形。报道的发病率各不相同，而潜在机制很少被讨论。在本研究中，对一个地理区域内定义明确的人群中的245例CLP患者进行了回顾性研究，以调查其他主要畸形和轻微异常情况。将CLP人群中的畸形发病率与基于文献的普通人群队列中的发病率进行了比较。在CLP患者中，21%表现出主要畸形或轻微异常。其中五分之一的患者被诊断出患有公认的综合征。三分之二有轻微异常的CLP患者也有主要畸形。非综合征性CLP患者中，主要畸形在肌肉骨骼系统（5.1%）、中枢神经系统（4.2%）、泌尿生殖系统（3.8%）和心血管系统（3.4%）中的发生率呈下降趋势。这些器官系统的畸形和轻微异常应由专科医生排除。与普通人群相比，外胚层和外中胚层起源器官的畸形发病率上升最高：中枢神经系统（13倍）、眼部（7倍）和颅面系统（7倍）。该结果反映了颅面发育与脑发育之间的密切相互作用。
