1. [Pai syndrome: Two new cases with unusual manifestations].
- Author
-
Huckstadt V, Heis Mendoza ME, Moresco A, and Obregon MG
- Subjects
- Female, Humans, Infant, Phenotype, Agenesis of Corpus Callosum diagnosis, Cleft Lip diagnosis, Coloboma diagnosis, Lipoma diagnosis, Nasal Polyps diagnosis, Skin Diseases diagnosis
- Abstract
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., (Sociedad Argentina de Pediatría.)
- Published
- 2018
- Full Text
- View/download PDF