Taylor Jesse A, Bartlett Scott P
Philadelphia, Pa.
From the Division of Plastic Surgery, The Children's Hospital of Philadelphia; and the Division of Plastic Surgery, Perelman School of Medicine, University of Pennsylvania.
Plast Reconstr Surg. 2017 Jul;140(1):82e-93e. doi: 10.1097/PRS.0000000000003524.
After studying this article, the participant should be able to: 1. Understand the role of prenatal screening and counseling of parents of unborn children with syndromic craniosynostosis. 2. Recognize the genetic abnormalities, craniofacial phenotype, associated anomalies, and challenges associated with each of the five major forms of syndromic craniosynostosis. 3. Identify the pros and cons associated with timing and types of cranial vault remodeling techniques in this patient population. 4. Understand the risks and benefits associated with midface advancement with Le Fort III, Le Fort II plus zygomatic repositioning, monobloc, and facial bipartition. 5. Understand the important role of psychological counseling throughout childhood in this at-risk group.
Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes are the five most common forms of syndromic craniosynostosis. Although each has different genetic underpinnings and associated anomalies, their hallmark finding is turribrachycephaly most often associated with bicoronal craniosynostosis. The role of prenatal screening and counseling is growing, with caregivers becoming involved before birth. Multidisciplinary care from birth onward involves craniofacial plastic surgeons, neurosurgeons, otolaryngologists, ophthalmologists, orthodontists, anesthesiologists, psychologists, speech therapists, and geneticists. Early partial, or regional, craniectomy may be urgently indicated in multisuture cases with signs of increased intracranial pressure. Others may be managed successfully with posterior cranial vault distraction, middle vault expansion, or fronto-orbital advancement. Some authors have advocated early monobloc advancement for those patients who require acute airway intervention and globe protection, although the risks of these procedures are high. Many patients will require midfacial advancement with a Le Fort III, Le Fort II plus zygomatic repositioning, monobloc, or facial bipartition. The indications, risks, and benefits for each midfacial procedure must be considered, as this step in the treatment algorithm may carry the greatest functional and aesthetic benefits but also the potential for the greatest morbidity. At the culmination of facial growth, it is not uncommon for patients to require conventional orthognathic surgery and other bony contouring and soft-tissue procedures. Finally, an understanding of the psychological aspects of craniofacial difference, both in affected individuals and in their families, is essential to a successful, holistic approach.
在学习本文后，参与者应能够：1. 理解对患有综合征性颅缝早闭的未出生胎儿的父母进行产前筛查和咨询的作用。2. 认识到与综合征性颅缝早闭的五种主要形式中的每一种相关的基因异常、颅面表型、相关畸形以及挑战。3. 确定该患者群体中颅骨重塑技术的时机和类型的利弊。4. 理解勒福III型、勒福II型加颧骨重新定位、整块骨前移和面部二分法进行面中部前移的风险和益处。5. 理解心理咨询在整个儿童期对这个高危群体的重要作用。
克鲁宗综合征、阿佩尔综合征、普费弗综合征、蒙克综合征和赛特勒 - 乔岑综合征是综合征性颅缝早闭最常见的五种形式。尽管每种综合征都有不同的基因基础和相关畸形，但其标志性表现是最常与双冠状颅缝早闭相关的短头畸形。产前筛查和咨询的作用在不断增加，护理人员在婴儿出生前就开始介入。从出生起的多学科护理涉及颅面整形外科医生、神经外科医生、耳鼻喉科医生、眼科医生、正畸医生、麻醉医生、心理学家、言语治疗师和遗传学家。在多缝性病例出现颅内压升高迹象时，可能急需早期进行部分或区域性颅骨切除术。其他病例可通过后颅穹窿牵张、中颅穹窿扩张或额眶前移成功治疗。一些作者主张对那些需要紧急气道干预和眼球保护的患者尽早进行整块骨前移，尽管这些手术的风险很高。许多患者需要通过勒福III型、勒福II型加颧骨重新定位、整块骨前移或面部二分法进行面中部前移。必须考虑每种面中部手术的适应症、风险和益处，因为治疗算法中的这一步骤可能带来最大的功能和美学益处，但也可能导致最大的发病率。在面部生长结束时，患者需要进行传统正颌手术以及其他骨轮廓整形和软组织手术的情况并不少见。最后，了解颅面差异对患者及其家庭心理方面的影响，对于成功的整体治疗方法至关重要。
