Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome

The association of bone marrow failure and skeletal defects has been freque ntly noted, however, the genetic basis for most of these syndromes remains unclear We describe a previously uncharacterized autosomal dominant syndrom e of amegakaryocytic thrombocytopenia associated with radial-ulnar synostos is. The clinical features of this syndrome appear to be distinct from other similar conditions, including Fanconi's anaemia and thrombocytopenia-absen t radii (TAR). The physical findings at diagnosis and clinical management o f each case are detailed, as well as a discussion of this disorder in the c ontext of other syndromes in which marrow failure and skeletal defects are prominent features. We also review recent developments in molecular genetic s that may provide important clues to the underlying aetiology of this cond ition.