• La Universidad
    • Historia
    • Rectoría
    • Autoridades
    • Secretaría General
    • Pastoral UC
    • Organización
    • Hechos y cifras
    • Noticias UC
  • 2011-03-15-13-28-09
  • Facultades
    • Agronomía e Ingeniería Forestal
    • Arquitectura, Diseño y Estudios Urbanos
    • Artes
    • Ciencias Biológicas
    • Ciencias Económicas y Administrativas
    • Ciencias Sociales
    • College
    • Comunicaciones
    • Derecho
    • Educación
    • Filosofía
    • Física
    • Historia, Geografía y Ciencia Política
    • Ingeniería
    • Letras
    • Matemáticas
    • Medicina
    • Química
    • Teología
    • Sede regional Villarrica
  • 2011-03-15-13-28-09
  • Organizaciones vinculadas
  • 2011-03-15-13-28-09
  • Bibliotecas
  • 2011-03-15-13-28-09
  • Mi Portal UC
  • 2011-03-15-13-28-09
  • Correo UC
- Repository logo
  • English
  • Català
  • Čeština
  • Deutsch
  • Español
  • Français
  • Gàidhlig
  • Latviešu
  • Magyar
  • Nederlands
  • Polski
  • Português
  • Português do Brasil
  • Suomi
  • Svenska
  • Türkçe
  • Қазақ
  • বাংলা
  • हिंदी
  • Ελληνικά
  • Yкраї́нська
  • Log in
    Log in
    Have you forgotten your password?
Repository logo
  • Communities & Collections
  • All of DSpace
  • English
  • Català
  • Čeština
  • Deutsch
  • Español
  • Français
  • Gàidhlig
  • Latviešu
  • Magyar
  • Nederlands
  • Polski
  • Português
  • Português do Brasil
  • Suomi
  • Svenska
  • Türkçe
  • Қазақ
  • বাংলা
  • हिंदी
  • Ελληνικά
  • Yкраї́нська
  • Log in
    Log in
    Have you forgotten your password?
  1. Home
  2. Browse by Author

Browsing by Author "Guion-Almeida, M. L."

Now showing 1 - 1 of 1
Results Per Page
Sort Options
  • No Thumbnail Available
    Item
    Pai syndrome: Report of seven South American patients
    (2007) Guion-Almeida, M. L.; Mellado, C.; Beltrán, C.; Richieri-Costa, A.
    Frontonasal 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.

Bibliotecas - Pontificia Universidad Católica de Chile- Dirección oficinas centrales: Av. Vicuña Mackenna 4860. Santiago de Chile.

  • Cookie settings
  • Privacy policy
  • End User Agreement
  • Send Feedback

We collect and process your personal information for the following purposes: Authentication, Preferences, Acknowledgement and Statistics.
To learn more, please read our
privacy policy.

Customize