title: Ghosal Type Hematodiaphyseal Dysplasia.
abstract: BACKGROUND
  Ghosal Type Hematodiaphyseal Dysplasia is an autosomal recessive disorder characterized by refractory anemia and diaphyseal bone dysplasia.
  
  
  METHODS
  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.
  
  
  RESULTS
  Low dose steroid therapy resulted in normalization of hemoglobin and prevented further progression of bony changes.
  
  
  CONCLUSIONS
  Refractory anemia in association with bony deformities should prompt pediatricians to investigate for inherited bony dysplasia.
authors.affiliation: Department of Pediatrics, AIIMS, New Delhi, India; #Imagine Institut des Maladies Genetiques, France;and $Laboratoire de Genetique Moleculaire, Institut de Recherche Necker Enfants Malades, Paris, France. Correspondence to: Dr Neerja Gupta, Assistant Professor, Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India. neerja17aiims@gmail.com.
authors.forename: Amrit
authors.initials: A
authors.lastname: Jeevan
authors.forename: Mathilde
authors.initials: M
authors.lastname: Doyard
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Valerie Cormier
authors.initials: VC
authors.lastname: Daire
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
mesh_terms: D000753:Anemia, Refractory / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D005269:Femur / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D017354:Point Mutation / Q000235:genetics; D013930:Thromboxane-A Synthase / Q000235:genetics
chemical_list: D013930:Thromboxane-A Synthase