Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement.

@article{Dursun2009FamilialPA,
  title={Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement.},
  author={Ali Emre Dursun and Riza Koksal Ozgul and Asli Soydas and Tugba Tugrul and Aytemiz Gurgey and Alpay Çeliker and Robyn J. Barst and James A Knowles and Mansukhani Mahesh and Jane H. Morse},
  journal={Clinical dysmorphology},
  year={2009},
  volume={18 1},
  pages={19-23}
}
We present two siblings with identical clinical findings that seem to represent a previously unreported familial syndrome. Major findings involve three systems: pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, and the hematopoietic system with intermittent neutropenia, lymphopenia, monocytosis, and anemia. The siblings also shared several minor abnormalities: pectus carinatum, long fingers, proximally placed thumb, broad nasal bridge, and high… CONTINUE READING