November 1967


Author Affiliations

Division of Human Genetics Cornell Medical College New York 10021

Am J Dis Child. 1967;114(5):582. doi:10.1001/archpedi.1967.02090260170019

To the Editor.—The "Picture of the Month" in the May issue of the Journal (page 583) shows a newborn infant under the diagnosis of Fanconi's anemia (chronic pancytopenia with multiple congenital abnormalities) with a generalized petechial rash and bilaterally absent radii. The left thumb appears grossly normal; the right one is not visible. No further data are given, but the infant seems normally developed otherwise.

These photographs suggest that this infant does not have Fanconi's anemia, but a different though perhaps related condition: the hemimelia-thrombocytopenia syndrome.

This condition, first described about 15 years ago,1 has been reviewed recently.2,3 It differs from Fanconi's anemia in the following respects: (1) neonatal thrombocytopenia with generalized bleeding tendency, (2) leukemoid reactions in infancy, no development of pancytopenia later, (3) usually absence of the pre- and perinatal growth retardation of children with Fanconi's anemia, (4) improvement of the blood picture and better

First Page Preview View Large
First page PDF preview
First page PDF preview