Huckstadt Victoria, Heis Mendoza María E, Moresco Angélica, Obregon María G
Servicio de Genética, Hospital de Pediatría Garrahan, Ciudad Autónoma de Buenos Aires, Argentina.
Arch Argent Pediatr. 2018 Apr 1;116(2):e336-e340. doi: 10.5546/aap.2018.e336.
Pai syndrome is a very rare congenital disorder characterized by medial cleft lip, nasal and facial cutaneous polyps, and pericallosal lipoma. Broad phenotypic variability exists in this condition. Neurodevelopment is usually normal. Up to date 42 cases have been reported in the literature. Different types of inheritance have been proposed, but most cases are sporadic. No gene has been identified. We report two cases with Pai syndrome, one of them with novel clinical findings as vertebral segmentation defects and choroidal osteoma.
派氏综合征是一种非常罕见的先天性疾病，其特征为唇内侧裂、鼻及面部皮肤息肉和胼胝体脂肪瘤。这种疾病存在广泛的表型变异性。神经发育通常正常。迄今为止，文献中已报道了42例病例。已提出不同类型的遗传方式，但大多数病例为散发性。尚未鉴定出相关基因。我们报告两例派氏综合征病例，其中一例有新的临床发现，如椎体节段性缺陷和脉络膜骨瘤。
