Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia

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 H asan 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 pr esent in each, Segregation analysis for DBA1 on chromosome 19 and DBA2 on 8 p23 was not consistent with linkage. We conclude that this syndrome of micr otia, cleft palate and DBA is not allelic to known DBA loci. (C) 2001 Wiley -Liss, Inc.