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A case of prenatally diagnosed autosomal dominant congenital hypoplastic anaemia (Blackfan-Diamond syndrome or Aase congenital anaemia) causing hydrops fetalis is presented. Recommendations for the prenatal management of Blackfan-Diamond syndrome (BDS) include prepregnancy counselling for parents with BDS, detailed and serial fetal ultrasonography and echocardiography, cordocentesis if there are signs of anaemia, consideration of in utero transfusions and planned early delivery if the fetus is affected.

Neutropenia is a rare complication of Diamond-Blackfan syndrome (congenital hypoplastic anaemia). Three patients are reported: all had neutropenia as well as anaemia, and to investigate the cause of the neutropenia culture of bone marrow for granulocyte-macrophage colony forming cells (GMCFCs) was performed. Two cases had a low incidence of GMCFCs, but the third case had a high incidence. These findings suggest that myeloid precursors can be abnormal in Diamond-Blackfan syndrome and that the mechanism of neutropenia may, like that of anaemia, vary from patient to patient.

A case of severe congenital anaemia (Hb levels 3--4 g/dl) is presented. The patient, a 21-year-old female, requires, since the age of two, periodical blood transfusions, but is nevertheless able to lead a normal life as a housewife. Although the case has to be considered as a form of congenital hypoplastic disorder of the erythroid tissue, some of the clinical and haematological features are compatible with a congenital dyserythropoietic state. On the basis of clinical findings it is suggested that it may represent a previously undescribed form of anaemia which shares the features of both hypoplastic and dysplastic congenital affections of erythropoiesis.

In the period 1975-1983 22 patients, aged 4-36 months were seen with severe transient normochromic, normocytic anaemia caused by a transient erythroblastopenia. In 20 patients bone marrow aspirations were obtained; they showed erythroblastopenia. In ten cases we observed young lymphoid cells, suggesting a diagnosis of acute lymphoblastic leukaemia. One patient suspected of a leukaemia, was studied in more detail. All patients showed reticulocytopenia. MCV and HbF were within normal range. During recovery reticulocytosis and higher levels of HbF were found. Except for blood transfusion in most patients, therapy (e.g. corticosteroids) was not necessary. Spontaneous recovery is a feature of this kind of erythroblastopenia, contrasting with congenital hypoplastic anaemia.

This report describes a 2-month-old female with the Aase syndrome, bringing to 8 the total number of cases of this disorder. Features include triphalangeal thumbs and congenital hypoplastic anaemia. The occurrence of this disorder in sibs born to unaffected parents and in both sexes makes autosomal recessive inheritance the most likely aetiology.

A 5-month-old boy with congenital hypoplastic anaemia and triphalangeal thumbs, known as the Aase syndrome, is described. In addition he had unilateral cleft lip and palate and abnormal dermatoglyphics. Only ten cases have been reported previously; these are reviewed. This case is the third patient reported to have the Aase syndrome who also has a cleft lip. Bone marrow cultures failed to stimulate production of erythropoietic precursors.

Six patients suffering from congenital hypoplastic anaemia and treated with prednisone are presented. Three of them responded well and showed reticulocytosis followed by increase of haemoglobin. Prednisone in a daily dosage of 15–20 mg. was effective while less seemed ineffective and higher doses did not give a better response. By giving prednisone intermittently marked growth retardation was avoided during observation periods of 4–13 years. The other three patients responded less well. It was not possible in these cases to elicit reticulocytosis regularly, and reticulocytosis was never followed by a corresponding increase of haemoglobin. One of these patients died from pneumonia at the age of 4 months. The other two have been treated for 4 and 5 years, respectively, with prednisone given intermittently, and with blood transfusions. Only moderate or mild growth retardation was observed.