Center for Human Genetics, IPG, Charleroi (Gosselies), Belgium.
Am J Med Genet A. 2012 Nov;158A(11):2899-904. doi: 10.1002/ajmg.a.35592. Epub 2012 Sep 17.
Pai syndrome is a rare disorder characterized by congenital nasal or facial polyp, midline cleft lip, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report on three patients with Pai syndrome and atypical findings: temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true tracheal bronchus, and epilepsy. Thirty-three cases of Pai syndrome have been described so far. We present a review of the previously reported cases and suggest modified diagnostic criteria for Pai syndrome.
派伊综合征是一种罕见的疾病，其特征为先天性鼻或面部息肉、中线唇裂、胼胝体脂肪瘤、眼部异常和正常的神经心理发育。在这里，我们报告了三例具有派伊综合征和非典型表现的患者：颞部三角形秃发、后发性晶状体混浊、双侧腭裂、悬雍垂分叉、尿道下裂、骶尾部窦道、真性气管支气管和癫痫。迄今为止，已经描述了 33 例派伊综合征病例。我们回顾了以前报道的病例，并提出了派伊综合征的改良诊断标准。
