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Multiple dysmorphic features and pancytopenia: a new syndrome?
Author(s) -
Sackey Kwesi,
Sakati Nadia,
Aur Rhomes J. A.,
Shebib Souheil,
Sabbah Rajeh S.,
Rifai Samira
Publication year - 1985
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1985.tb02046.x
Subject(s) - pancytopenia , bone marrow aplasia , aplasia , medicine , pediatrics , fanconi anemia , bone marrow failure , fanconi syndrome , bone marrow , pathology , genetics , anatomy , biology , haematopoiesis , stem cell , gene , dna repair , kidney
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.