We report on maternal first cousins with bilateral microtia, micrognathia, cleft 
palate and hematologic findings of Diamond-Blackfan anemia (DBA). The similarity 
of findings shared between our cases and a female reported by Hasan and Inoue 
[1993] suggests that this is a distinctive syndrome, rather than a chance 
association. DBA is a heterogeneous disorder, caused in about 25% of cases by 
heterozygous mutations in the RPS19 gene (DBA1). Mutation analysis in our cases 
did not show an RPS19 mutation, and 2 alleles were present in each. Segregation 
analysis for DBA1 on chromosome 19 and DBA2 on 8p23 was not consistent with 
linkage. We conclude that this syndrome of microtia, cleft palate and DBA is not 
allelic to known DBA loci.