Síndrome de Pai: dos nuevos casos con manifestaciones inusuales / Pai syndrome: Two new cases with unusual manifestations
Arch. argent. pediatr
; 116(2): 336-340, abr. 2018. ilus, tab
Article
in Spanish
| LILACS, BINACIS
| ID: biblio-887482
Responsible library:
AR94.1
RESUMEN
El síndrome de Pai se describe como la presencia de 3 anomalías congénitas fisura de labio medial, pólipos cutáneos nasales y faciales, y lipoma pericallosal. La expresión clínica es variable. El desarrollo neuromadurativo suele ser normal. Existen 42 casos descritos en la literatura. Se proponen distintos tipos de herencia, pero, hasta la actualidad, no existe un gen asignado para esta patología. Se presentan dos pacientes con síndrome de Pai, uno de ellos con hallazgos clínicos aún no descritos (defectos de segmentación vertebral y osteoma coroideo).
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.
Full text:
Available
Collection:
International databases
Database:
BINACIS
/
LILACS
Main subject:
Skin Diseases
/
Coloboma
/
Nasal Polyps
/
Cleft Lip
/
Agenesis of Corpus Callosum
/
Lipoma
Type of study:
Prognostic study
Limits:
Female
/
Humans
/
Infant
Language:
Spanish
Journal:
Arch. argent. pediatr
Journal subject:
Pediatrics
Year:
2018
Document type:
Article
Affiliation country:
Argentina
Institution/Affiliation country:
Hospital de Pediatría Garrahan/AR