Figure 1
Figure 1. Overlapping and distinct clinical features of inherited marrow failure ribosomopathies. DBA, SDS, and DC are all characterized by marrow failure, predisposition to MDS/AML, and congenital anomalies. The primary feature of marrow failure in DBA is red-cell aplasia, although other hematologic lineages may also be variably affected. Although neutropenia is the most common feature of marrow failure in SDS, all 3 lineages may be depressed. Cellular and humoral immunologic abnormalities have been reported in DC and SDS. The spectrum of physical anomalies in these 3 syndromes shares both overlapping and distinct features.1 Exocrine pancreatic lipomatosis is characteristic of SDS, whereas pulmonary fibrosis is a common characteristic of DC. The risk of soft tissue sarcomas is increased in DBA, and the risk of squamous cell carcinomas of the oropharynx and gastrointestinal tract is elevated in DC. Data are insufficient to determine whether solid tumor risk is elevated in SDS. More detailed descriptions of clinical phenotypes have been reviewed.1

Overlapping and distinct clinical features of inherited marrow failure ribosomopathies. DBA, SDS, and DC are all characterized by marrow failure, predisposition to MDS/AML, and congenital anomalies. The primary feature of marrow failure in DBA is red-cell aplasia, although other hematologic lineages may also be variably affected. Although neutropenia is the most common feature of marrow failure in SDS, all 3 lineages may be depressed. Cellular and humoral immunologic abnormalities have been reported in DC and SDS. The spectrum of physical anomalies in these 3 syndromes shares both overlapping and distinct features. Exocrine pancreatic lipomatosis is characteristic of SDS, whereas pulmonary fibrosis is a common characteristic of DC. The risk of soft tissue sarcomas is increased in DBA, and the risk of squamous cell carcinomas of the oropharynx and gastrointestinal tract is elevated in DC. Data are insufficient to determine whether solid tumor risk is elevated in SDS. More detailed descriptions of clinical phenotypes have been reviewed.

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