Thrombocytopenia-absent radius syndrome | EL SINDROME DE TROMBOPENIA-APLASIA RADIAL (TAR). A PROPOSITO DE UN CASO Academic Article uri icon

Overview

MeSH Major

  • Abnormalities, Multiple
  • Cytomegalovirus Infections
  • Infant, Newborn, Diseases
  • Radius
  • Thrombocytopenia

abstract

  • 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.

publication date

  • December 1982

Research

keywords

  • Academic Article

Identity

Language

  • spa

PubMed ID

  • 6282159

Additional Document Info

start page

  • 82

end page

  • 7

volume

  • 16

number

  • 1