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Dursun syndrome

MIM.613034

Monday 30 August 2010

Synopsis

- pulmonary arterial hypertension
- cardiac abnormalities

  • secundum-type atrial septal defect
    - hematologic abnormalities
  • intermittent neutropenia
  • lymphopenia
  • monocytosis
  • anemia
  • marked thymic involution
    - pectus carinatum
    - long fingers proximally placed thumb,
    - broad nasal bridge
    - high-arched palate
    - bilateral inguinal hernias
    - undescended testes

Etiology

- Mutations in the G6PC3 gene in Dursun syndrome. (20799326)

References

- Mutations in the G6PC3 gene cause Dursun syndrome. Banka S, Newman WG, Ozg├╝l RK, Dursun A. Am J Med Genet A. 2010 Aug 26. PMID: 20799326

- Dursun, A., Ozgul, R. K., Soydas, A., Tugrul, T., Gurgey, A., Celiker, A., Barst, R. J., Knowles, J. A., Mahesh, M., Morse, J. H. Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement. Clin. Dysmorph. 18: 19-23, 2009. PubMed: 19011569