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Article

[Pai syndrome: Two new cases with unusual manifestations].

Archivos argentinos de pediatria - 1 Apr 2018

Huckstadt Victoria, Heis Mendoza María E, Moresco Angélica, Obregon María G

Abstract excerpt

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...

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Identifiers

PMID: 29557629
DOI: 10.5546/aap.2018.e336

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