Article

Ghosal Type Hematodiaphyseal Dysplasia- A rare and unusual cause of cytopenias

2024-10-08

Abstract excerpt

Ghosal Type Hematodiaphyseal Dysplasia (GHDD) is an autosomal recessive disorder characterized by metadiaphyseal dysplasia, defective hematopoiesis and steroid sensitive anemia. The diagnosis of this rare syndrome is important as early diagnosis helps in initiation of treatment leading to improvement in anemia and bony changes. Herein, we report two cases where the diagnosis was confirmed by mutation analysis. Tre...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9ae8cc7c-e389-590e-ae94-5b22ddbf6144
DOI: 10.22541/au.172839064.45017275/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 9 closest

Ghosal Type Hematodiaphyseal Dysplasia- A rare and unusual cause of cytopeniasDOI 10.22541/au.172839064.45017275/v1Read

Clinical Profile of Ghosal Hematodiaphyseal Dysplasia Presenting as Bone Marrow FailureSemantic proximity Read

Ghosal Hematodiaphyseal Dysplasia: A Case Report With Review of Genetically Confirmed Cases.Semantic proximity Read

Steroid-responsive anemia with bony dysplasias: What lurks behind!Semantic proximity Read

Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids.Semantic proximity Read

Hypophosphatemic Rickets secondary to Fanconi Syndrome and Hypogonadotropic Hypogonadism; A Rare Case Report and Literature ReviewSemantic proximity Read

A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.Semantic proximity Read

Erythropoiesis defect observed in STAT3 GOF patients with severe anemiaSemantic proximity Read

Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype.Semantic proximity Read

Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose‐6‐phosphate dehydrogenase (G‐6‐PD) deficiencySemantic proximity Read