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Archivos argentinos de pediatría
Print version ISSN 0325-0075On-line version ISSN 1668-3501
Abstract
HUCKSTADT, Victoria; HEIS MENDOZA, María E; MORESCO, Angélica and OBREGON, María G. Pai syndrome: Two new cases with unusual manifestations. Arch. argent. pediatr. [online]. 2018, vol.116, n.2, pp.e336-e340. ISSN 0325-0075. http://dx.doi.org/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.
Keywords : Pai syndrome; Nasal polyps; Pericallosal lipoma; Corpus callosum; Vertebral anomalies.