Honey Engela M, Bütow Kurt W, Zwahlen Roger Arthur
Facial Cleft Deformity Clinic, Department of Maxillo-Facial and Oral Surgery, University of Pretoria, Pretoria, South Africa.
Department of Biochemistry, Genetics and Microbiology, Faculty of Natural and Agricultural Science, University of Pretoria, Pretoria, South Africa.
Ann Maxillofac Surg. 2019 Jan-Jun;9(1):140-145. doi: 10.4103/ams.ams_50_19.
Cleft patients with Holoprosencephaly (HPE) constitute a controversy due to a variable facial appearance. HPE appearance varies from only a columella to a prolabium-premaxilla complex agenesis up to a common unilateral or bilateral cleft lip and palate with a single central incisor, various brain deformities, and/or even normal brain development. It is challenging to designate such various appearances, to understand their etiopathogenesis, and to choose the most appropriate management. Literature was reviewed for diagnostic criteria, pregnancy history, clinical findings, brain development, survival rate, initial perioperative management, and postsurgical midfacial growth in cleft patients with HPE. The findings were compared with a clinical database of 85 cleft patients with HPE at the Department of Maxillofacial and Oral Surgery, University of Pretoria.
AIMS OF PART 1: The aim of the study is to overcome disparities widely existing among clinicians regarding definitive diagnostic criteria, especially in cases with a common appearance of a uni- or bilateral cleft lip alveolus or cleft lip, alveolus and palate deformity, and cases presenting facial structural agenesis.
A literature search related to diagnostic criteria was compared to results of a cleft HPE database from a single tertiary institution.
HPE cleft cases can be allocated to one of the following subdivisions: (1) columella complex agenesis (Ag-Colum), (2) prolabium-premaxilla-columella complex agenesis in cleft lip-alveolus deformities (Ag-CLA), (3) prolabium-premaxilla-columella agenesis in cases with complete cleft lip alveolus palate (Ag-CLAP), and (4) standard type (holoprosencephaly in patients with a standard cleft) with uni- or bilateral CLA or CLAP, hard and soft palate cleft (hPsP), and atrophic premaxillae, with or without single central incisor. Further, incidence, variation in brain development, and appearances in HPE cleft patients of different races and gender, epilepsy, and early death are discussed. Conclusion: This paper adds new data and facts to the existing literature related to cleft lip and palate patients suffering from HPE.
患有前脑无裂畸形（HPE）的腭裂患者因面部外观各异而存在争议。HPE的外观差异很大，从仅有鼻中隔到唇前突-上颌骨复合体发育不全，再到伴有单个中切牙的常见单侧或双侧唇腭裂、各种脑畸形，甚至脑发育正常。确定如此多样的外观、理解其病因发病机制并选择最合适的治疗方法具有挑战性。对有关HPE腭裂患者的诊断标准、妊娠史、临床发现、脑发育、生存率、围手术期初始处理及术后面中部生长的文献进行了综述。将研究结果与比勒陀利亚大学颌面与口腔外科85例HPE腭裂患者的临床数据库进行了比较。
本研究的目的是克服临床医生在明确诊断标准方面广泛存在的差异，尤其是在具有常见单侧或双侧唇牙槽裂或唇、牙槽突及腭裂畸形外观的病例以及出现面部结构发育不全的病例中。
将与诊断标准相关的文献检索结果与来自单一三级机构的HPE腭裂数据库的结果进行比较。
HPE腭裂病例可分为以下亚组：（1）鼻中隔复合体发育不全（Ag-Colum），（2）唇牙槽裂畸形中的唇前突-上颌骨-鼻中隔复合体发育不全（Ag-CLA），（3）完全性唇牙槽腭裂病例中的唇前突-上颌骨-鼻中隔发育不全（Ag-CLAP），以及（4）标准型（标准腭裂患者中的前脑无裂畸形），伴有单侧或双侧唇牙槽裂或唇牙槽腭裂、硬腭和软腭裂（hPsP）以及萎缩性上颌骨，有无单个中切牙。此外，还讨论了不同种族和性别的HPE腭裂患者的发病率、脑发育差异、外观、癫痫及早期死亡情况。结论：本文为现有关于患有HPE的唇腭裂患者的文献增添了新的数据和事实。
