Multiple dysmorphic features and pancytopenia: a new syndrome?
Article first published online: 23 APR 2008
Volume 27, Issue 6, pages 606–610, June 1985
How to Cite
Sackey, K., Sakati, N., Aur, R. J. A., Shebib, S., Sabbah, R. S. and Rifai, S. (1985), Multiple dysmorphic features and pancytopenia: a new syndrome?. Clinical Genetics, 27: 606–610. doi: 10.1111/j.1399-0004.1985.tb02046.x
- Issue published online: 23 APR 2008
- Article first published online: 23 APR 2008
- Received 15 August 1984, accepted for publication 12 January 1985
- Multiple congenital anomalies;
- multiple dysmorphic features;
Various degrees of bone marrow aplasia have been described in association with distinctive congenital anomalies such as the Fanconi Pancytopenia Syndrome (F.P.S.), Thrombocytopenia Absent Radii Syndrome (T.A.R. Syndrome) the Aase Syndrome and Diamond-Blackfan Anemia. This case report describes a child with pancytopenia and several dysmorphic features which have never collectively been described in any of the bone marrow aplasia syndromes listed above. In this paper, we report a constellation of dysmorphic features and pancytopenia which may constitute a new syndrome.