Morice A, Galliani E, Amiel J, Rachwalski M, Neiva C, Thauvin-Robinet C, Vazquez M-P, Picard A, Kadlub N
Department of Maxillofacial and Plastic Surgery, Rare Diseases Reference Centre Coordinator for Clefts and Facial Malformations, Hôpital Universitaire Necker-Enfants Malades, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
Department of Maxillofacial and Plastic Surgery, Rare Diseases Reference Centre Coordinator for Clefts and Facial Malformations, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
Int J Oral Maxillofac Surg. 2019 Mar;48(3):283-290. doi: 10.1016/j.ijom.2018.08.010. Epub 2018 Sep 6.
Pai syndrome was originally described as the association of a midline cleft lip, midline facial polyps, and lipoma of the central nervous system. However, only a few patients present with the full triad, and most exhibit a wide spectrum of phenotypic variability. The aim of this study was to phenotypically delineate Pai syndrome and to propose new criteria to facilitate a clinical diagnosis in the future. The study cohort consisted of seven case patients and an additional 60 cases diagnosed with Pai syndrome identified in a literature review. Only 23 of 67 patients presented the full triad as historically described by Pai et al. (1987). A congenital facial midline skin mass was always encountered, particularly affecting the nasal structures (60/67). A midline facial cleft was reported in 45 of 67 patients and a pericallosal lipoma in 42 of 67 patients. The proposed definition of Pai syndrome is the association of (1) a congenital nasal and/or mediofrontal skin mass and/or a mid-anterior alveolar process polyp as a mandatory criterion, and at least one of the following criteria: (2) midline cleft lip and/or midline alveolar cleft, and/or (3) a pericallosal lipoma or interhemispheric lipoma in the case of corpus callosum dysgenesis.
派氏综合征最初被描述为中线唇裂、中线面部息肉和中枢神经系统脂肪瘤的关联。然而，只有少数患者呈现完整的三联征，大多数患者表现出广泛的表型变异性。本研究的目的是从表型上描述派氏综合征，并提出新的标准以便于未来的临床诊断。研究队列包括7例病例患者以及通过文献回顾确定的另外60例诊断为派氏综合征的病例。在67例患者中，只有23例呈现出派等人（1987年）历史描述的完整三联征。总是会遇到先天性面部中线皮肤肿物，尤其影响鼻结构（60/67）。67例患者中有45例报告有中线面部裂，67例患者中有42例有胼胝体脂肪瘤。派氏综合征的拟议定义为：（1）先天性鼻和/或额中部皮肤肿物和/或中前牙槽突息肉作为强制性标准，以及以下标准中的至少一项：（2）中线唇裂和/或中线牙槽裂，和/或（3）在胼胝体发育不全的情况下为胼胝体脂肪瘤或半球间脂肪瘤。
