Pai syndrome: Report of seven South American patients

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dc.catalogadorpau
dc.contributor.authorGuion-Almeida, M. L.
dc.contributor.authorMellado, C.
dc.contributor.authorBeltrán, C.
dc.contributor.authorRichieri-Costa, A.
dc.date.accessioned2024-01-19T19:22:43Z
dc.date.available2024-01-19T19:22:43Z
dc.date.issued2007
dc.description.abstractFrontonasal dysplasia is etiologically heterogeneous and various subsets are known. Pai syndrome is one subset, which is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report seven South American patients and review earlier reported cases. The phenotype is clinically variable and five reported patients were severely affected. The cause of Pai syndrome is unknown to date. Several literature findings have been noted: nondiagnostic and discordant minor signs in a parent of two separate families with an affected child; discordant phenotype in monozygotic twins in one instance; and a de novo reciprocal translocation, 46,X,t(X;16)(q28;q11.2) in one instance. © 2007 Wiley-Liss, Inc.
dc.fuente.origenORCID-ene24
dc.identifier.doi10.1002/ajmg.a.31962
dc.identifier.issn2072-6643
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.31962
dc.identifier.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-37249087184&partnerID=MN8TOARS
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/80828
dc.identifier.wosidWOS:000251405100050
dc.information.autorucEscuela de Medicina; Mellado Sagredo, Cecilia Ximena Del Carmen; 0000-0002-6032-4651; 1002671
dc.issue.numero24
dc.language.isoen
dc.nota.accesoContenido parcial
dc.revistaAmerican Journal of Medical Genetics, Part A
dc.rightsacceso restringido
dc.subjectFrontonasal dysplasiaes_ES
dc.subjectMidline cleftinges_ES
dc.subjectNasal and facial appendageses_ES
dc.subjectPericallosal lipomaes_ES
dc.subject.ods03 Good health and well-being
dc.subject.odspa03 Salud y bienestar
dc.titlePai syndrome: Report of seven South American patientses_ES
dc.typeartículo
dc.volumen143
sipa.codpersvinculados1002671
sipa.trazabilidadORCID;2024-01-08
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