Ghosal Type Hematodiaphyseal Dysplasia.

ABSTRACT

Background: Ghosal Type Hematodiaphyseal Dysplasia is an autosomal recessive disorder characterized by refractory anemia and diaphyseal bone dysplasia. Case characteristics A 3 y 9 mo-old male child presented with progressive anemia and bowing of thighs. Child was found to have a previously reported homozygous point mutation c.1238G>A, (p.Arg413Glu) in Exon 16 of TBXAS1 gene. Outcome: Low dose steroid therapy resulted in normalization of hemoglobin and prevented further progression of bony changes. Message Refractory anemia in association with bony deformities should prompt pediatricians to investigate for inherited bony dysplasia.