Abstract：
Pai syndrome is 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 the full triad, and most exhibit a wide spectrum of phenotypic variability. Its entire clinical spectrum is still poorly delineated and the etiology remains unknown. In this report, a newborn was presented with congenital nasal septal lipoma, lipoma of the corpus callosum, multiple ventricular septal defect, and additional minor facial dysmorphism. This entity, multiple ventricular septal defect, which has never been reported in PS. Cytogenetic analysis showed normal male 46, XY karyotype. Chromosomal microarray analysis (750 K array) was also unremarkable. This case draws attention with the presence of multiple ventricular septal defect in Pai syndrome and is important in terms of providing phenotypic diversity. To our knowledge, this is also the first genetically evaluated case of Pai syndrome from Turkey.
摘要：
Pai综合征被描述为中线唇裂的关联，面部中线息肉,还有中枢神经系统的脂肪瘤.然而,只有少数患者呈现完整的三合会，大多数表现出广泛的表型变异性。其整个临床范围仍然没有很好的描述，病因仍然未知。在这份报告中,一名新生儿患有先天性鼻中隔脂肪瘤，call体脂肪瘤，多发性室间隔缺损,和其他轻微的面部畸形。这个实体,多发性室间隔缺损,这在PS中从未报道过。细胞遗传学分析显示正常男性46，XY核型。染色体微阵列分析(750K阵列)也不显著。这种情况引起了人们的注意，因为Pai综合征中存在多发性室间隔缺损，并且在提供表型多样性方面很重要。据我们所知,这也是土耳其首例进行基因评估的Pai综合征病例。
