| Literature DB >> 27156553 |
Amrit Jeevan1, Mathilde Doyard, Madhulika Kabra, Valerie Cormier Daire, Neerja Gupta.
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.Entities:
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Year: 2016 PMID： 27156553 DOI： 10.1007/s13312-016-0851-y
Source DB: PubMed Journal: Indian Pediatr ISSN： 0019-6061 Impact factor: 1.411