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Congenital thrombocytopenia and radio‐ulnar synostosis: a new familial syndrome
Author(s) -
Thompson Alexis A.,
Woodruff Kelly,
Feig Stephen A.,
Nguyen Long T.,
Schanen N. Carolyn
Publication year - 2001
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2001.02834.x
Subject(s) - medicine , bone marrow failure , context (archaeology) , etiology , synostosis , fanconi anemia , bone marrow , immunology , pathology , pediatrics , genetics , surgery , biology , stem cell , paleontology , haematopoiesis , gene , dna repair
The association of bone marrow failure and skeletal defects has been frequently noted, however, the genetic basis for most of these syndromes remains unclear. We describe a previously uncharacterized autosomal dominant syndrome of amegakaryocytic thrombocytopenia associated with radial‐ulnar synostosis. The clinical features of this syndrome appear to be distinct from other similar conditions, including Fanconi's anaemia and thrombocytopenia‐absent radii (TAR). The physical findings at diagnosis and clinical management of each case are detailed, as well as a discussion of this disorder in the context of other syndromes in which marrow failure and skeletal defects are prominent features. We also review recent developments in molecular genetics that may provide important clues to the underlying aetiology of this condition.