Familial Hypoplastic Anemia of Childhood

Familial Haemophagocytic Reticulosis

“…By 9 weeks of age, however, in both cases the destructive process preponderated although there was some cyclical remission and relapse in Case 2, and terminally in both cases the marrow was unable to cope with the progressive destruction and progressive panhaemotopenia. Estren and Dameshek (1947) and Dameshek and Estren (1950) believe that the spleen normally exerts an influence on the marrow designed to prevent the escape of immature cells into the peripheral blood, and when this is excessive inhibition of the marrow may follow with a progressive deficiency of one or more cellular elements in the blood stream. Such functional hypersplenism may be not only primary but secondary to other disorders causing splenomegaly.…”

Fanconi anemia, dyskeratosis congenita, and WT syndrome

“…However, it should be pointed out that congenital anomalies are not always present in FA patients. In 1947, Estren andDameshek [1947] described 3 of 7 sibs and 5 of 14 sibs, respectively, in 2 different families, with bone marrow hypoplasia and pancytopenia without obvious congenital anomalies. A recent investigation of this family by Li and Potter [ 19781 showed that a second cousin of one of these patients had typical Fanconi anemia.…”

Fanconi anemia and risk of diverse types of cancer: An overview

“…In addition, patients with "Fanconi-like" bone marrow loss were previously thought to have Estren-Dameshek syndrome but had no congenital abnormalities. [23] Numerous examples of VACTERL with hydrocephalus and Baller-Gerold syndrome have been documented in the literature; however, when the patients had BMF and a successful chromosomal breakage test with a crosslinking agent, the diagnosis was revised to FA. [24]…”