A neonate with severe thrombocytopenia and radio-ulnar synostosis.
Bone marrow failure syndromes can be associated with abnormalities of the forearms. We observed a neonate with congenital thrombocytopenia who had bilateral radio-ulnar synostosis and fifth finger clinodactly. We performed an evaluation of the mechanism causing the thrombocytopenia using a combination of direct and indirect measures of thrombopoiesis. These tests indicated decreased platelet production. This entity of congenital hyporegenerative thrombocytopenia with bilateral radio-ulnar synostosis and fifth-finger clinodactly is an uncommon but easily recognizable form of congenital amegakaryocytic thrombocytopenia (CAMT). This entity can be distinguished from the TAR syndrome (thrombocytopenia and absent radii) by the distinctive orthopedic issues, different underlying genetic mutations, and a more worrisome prognosis for CAMT than for TAR.
Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.
Martha C
MC
Sola
William B
WB
Slayton
Lisa M
LM
Rimsza
Jose A
JA
Perez
Deborah
D
Fuchs
Deborah
D
Fuch
Darlene A
DA
Calhoun
Robert D
RD
Christensen
D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017713:Platelet Transfusion; D011859:Radiography; D011884:Radius / Q000002:abnormalities* / Q000000981:diagnostic imaging; D012720:Severity of Illness Index; D013580:Synostosis / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology / Q000628:therapy; D013921:Thrombocytopenia / Q000150:complications / Q000151:congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology / Q000628:therapy; D014457:Ulna / Q000002:abnormalities* / Q000000981:diagnostic imaging