Gazda et al. (2012) studied a 3.5-year-old girl with Diamond-Blackfan anemia who was born with isolated cleft palate, absent external auditory meatus on the right and a narrowed meatus on the left, incomplete lower left eyelid, bicuspid aortic ... Gazda et al. (2012) studied a 3.5-year-old girl with Diamond-Blackfan anemia who was born with isolated cleft palate, absent external auditory meatus on the right and a narrowed meatus on the left, incomplete lower left eyelid, bicuspid aortic valve, and agenesis of the left kidney. In the right upper extremity, she had a single bone in the forearm, likely the ulna, and on the left, synostosis of a shortened radius and ulna; both thumbs were absent and she had 3 digits on each hand. She was anemic at birth, requiring transfusion twice during the perinatal period. By 7 weeks of age, she was again anemic and profoundly neutropenic; bone marrow examination showed cellularity of 40% with markedly decreased erythropoiesis. She had a good response to steroids and was maintained on a minimal dose with only occasional neutropenia and no further need for transfusions.
In a cohort of 96 families with Diamond-Blackfan anemia, the majority of whom had been included in previous reports (Gazda et al., 2006, 2008; Farrar et al., 2008; Doherty et al., 2010) and all of whom were negative ... In a cohort of 96 families with Diamond-Blackfan anemia, the majority of whom had been included in previous reports (Gazda et al., 2006, 2008; Farrar et al., 2008; Doherty et al., 2010) and all of whom were negative for mutation in known DBA-associated genes, Gazda et al. (2012) sequenced 16 candidate ribosomal protein genes, and identified a pathogenic mutation in 1 patient: a 3.5-year-old girl with anemia and multiple malformations who was heterozygous for a de novo 2-bp deletion in the RPL26 gene (603704.0001).