Case report: Ghosal hematodiaphyseal dysplasia-A rare cause of skeletal dysplasia and cytopenia

Int J Rheum Dis. 2024 Jun;27(6):e15220. doi: 10.1111/1756-185X.15220.

Authors

Swee Gaik Ong¹, Hui Jen Ding¹, Mei Yan Chan², Weng Khean Loh³, Maizatul Jamny Mahmood⁴

Affiliations

¹ Rheumatology Unit, Department of Medicine, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.
² Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.
³ Department of Haematology, Ampang Hospital, Ampang Jaya, Malaysia.
⁴ Department of Radiology, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.

PMID: 38873830
DOI: 10.1111/1756-185X.15220

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Anemia, Refractory
Congenital Bone Marrow Failure Syndromes / complications
Congenital Bone Marrow Failure Syndromes / drug therapy
Cytopenia
Female
Humans
Male
Osteochondrodysplasias* / complications
Osteochondrodysplasias* / diagnosis
Osteochondrodysplasias* / diagnostic imaging
Pancytopenia / drug therapy
Pancytopenia / etiology
Treatment Outcome

Supplementary concepts

Ghosal Hematodiaphyseal Dysplasia