[Thrombocytopenia-absent radius syndrome (author's transl)].
A patient affected with thrombocytopenia and bilateral absence of radius is described. Authors present data suggesting an acquired etiology: intrauterine cytomegalovirus infection and X-ray exposure during the ovulatory period. Patient showed some radiological features not previously described: methacarpian synostosis and absence of sternum ossification centers. Anemia was etiologically related to the iron deficiency secondary to bleeding. Chronic diarrhea, a feature common in this syndrome, was caused by cow's milk protein intolerance, other causes of chronic diarrhea, like pancreatic malfunction or disaccharidal intolerance were discarted. Finally comments on the differential diagnosis of the illness, its' evolution and treatment, pointing out the possibility of an intrauterine diagnosis, crucial for a correct genetic counselling are made.
D000015:Abnormalities, Multiple / Q000209:etiology* / Q000235:genetics; D000747:Anemia, Hypochromic / Q000209:etiology; D003586:Cytomegalovirus Infections / Q000150:complications*; D003968:Diarrhea, Infantile / Q000209:etiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000209:etiology*; D008297:Male; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious; D011832:Radiation Injuries; D011884:Radius / Q000002:abnormalities*; D013921:Thrombocytopenia / Q000209:etiology*
El síndrome de trombopenia-aplasia radial (TAR). A propósito de un caso.