SciELO - Scientific Electronic Library Online

 
vol.116 issue2Goldboom's syndrome: prolonged febrile syndrome with dysproteinemia. Case reportSurgical treatment of macroglossia in Beckwith-Wiedemann syndrome: case report author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

  • Have no cited articlesCited by SciELO

Related links

  • Have no similar articlesSimilars in SciELO

Share


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.

        · abstract in Spanish     · text in Spanish

 

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License