Sathienkijkanchai Achara, Prucka Sandra K, Grant John H, Robin Nathaniel H
Department of Genetics, University of Alabama at Birmingham, 1530 3rd Avenue South, Birmingham, AL 35294, USA.
J Craniofac Surg. 2008 Jan;19(1):279-83. doi: 10.1097/SCS.0b013e31815ca067.
Facial asymmetry is a common finding in infants and can be the result of a number of distinctive conditions such as hemifacial microsomia, overgrowth syndromes, a soft tissue tumor, and a vascular malformation. However, overgrowth syndromes such as Beckwith-Wiedemann syndrome (BWS) typically manifest more extensive involvement; it rarely presents as isolated facial overgrowth.Here, we present a 7-year-old boy who presented with facial asymmetry. He was found to have isolated facial hemihyperplasia, involving his right cheek and teeth. No abnormalities were seen in the rest of his examination. The diagnosis of BWS was considered and was confirmed by detection of a methylation abnormality in H19 (DMR1). This case demonstrates that BWS should be considered, even with isolated facial involvement. This is important, as affected patients are predisposed to certain malignancies, especially in the first 5 to 8 years of life. Therefore, specialized surveillance is recommended as the part of management.
面部不对称在婴儿中很常见，可能是由多种独特病症引起的，如半侧颜面短小畸形、过度生长综合征、软组织肿瘤和血管畸形。然而，像贝克威思-维德曼综合征（BWS）这样的过度生长综合征通常表现为更广泛的受累；它很少仅表现为面部过度生长。在此，我们报告一名7岁男孩，他表现为面部不对称。经检查发现他患有孤立性面部半侧增生，累及右侧脸颊和牙齿。他身体其他部位检查未见异常。考虑诊断为BWS，并通过检测H19（DMR1）中的甲基化异常得以证实。该病例表明，即使仅有面部受累，也应考虑BWS。这很重要，因为受影响的患者易患某些恶性肿瘤，尤其是在生命的最初5至8年。因此，建议将专门的监测作为管理的一部分。
