title: Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome.
abstract: 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.
authors.affiliation: Departments of Paediatrics, University of California, Los Angeles School of Medicine, Los Angeles, CA, USA. athompso@childrensmemorial.org
authors.forename: A A
authors.initials: AA
authors.lastname: Thompson
authors.forename: K
authors.initials: K
authors.lastname: Woodruff
authors.forename: S A
authors.initials: SA
authors.lastname: Feig
authors.forename: L T
authors.initials: LT
authors.lastname: Nguyen
authors.forename: N C
authors.initials: NC
authors.lastname: Schanen
mesh_terms: D001854:Bone Marrow Cells / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008533:Megakaryocytes; D010375:Pedigree; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013580:Synostosis / Q000150:complications* / Q000473:pathology; D013921:Thrombocytopenia / Q000151:congenital* / Q000473:pathology; D014457:Ulna / Q000002:abnormalities*