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Ghosal Type Hematodiaphyseal Dysplasia
Amrit Jeevan1, Mathilde Doyard, Madhulika Kabra
1Department 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.
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.
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