Chromosome abnormality and hypocalcemia in congenital erythroid hypoplasia (blackfan-diamond syndrome)

We have described a patient with chronic erythroid hypoplasia (Blackfan-Diamond syndrome) and persistent hypocalcemia in whom we have demonstrated an abnormal chromosome. The results of all hematologic studies were consistent with the diagnosis of a chronic erythroid hypoplasia. The data available did not permit us to determine whether the hypocalcemia was a manifestation of idiopathic hypoparathyroidism or of pseudohypoparathyroidism. This group of findings, to our knowledge, has not been reported previously.