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Ghosal type hematodiaphyseal dysplasia

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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.

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Author information

Authors and Affiliations

  1. Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India

    Amrit Jeevan, Madhulika Kabra & Neerja Gupta

  2. Imagine Institut des Maladies Genetiques, Paris, France

    Mathilde Doyard

  3. Laboratoire de Genetique Moleculaire, Institut de Recherche Necker Enfants Malades, Paris, France

    Valerie Cormier Daire

Authors
  1. Amrit Jeevan
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  2. Mathilde Doyard
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  3. Madhulika Kabra
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  4. Valerie Cormier Daire
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  5. Neerja Gupta
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Corresponding author

Correspondence to Neerja Gupta.

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Jeevan, A., Doyard, M., Kabra, M. et al. Ghosal type hematodiaphyseal dysplasia. Indian Pediatr 53, 347–348 (2016). https://doi.org/10.1007/s13312-016-0851-y

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  • DOI: https://doi.org/10.1007/s13312-016-0851-y

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