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Literature DB >> 8444247

Ghosal haemato-diaphyseal dysplasia: a new disorder.

Abstract

We describe two siblings, products of a first cousin marriage, with diaphyseal dysplasia, severe anaemia, leukopenia, and thrombocytopenia. Radiologically, both had wide medullary cavities with discrete cortical hyperosthosis. Bone marrow was hypocellular. These, and six similar cases in the literature [6], suggest that they represent a form of diaphyseal dysplasia differing from Camurati-Engelmann disease by their radiological appearance, associated haematological abnormalities and autosomal recessive inheritance.

Entities: Disease

Mesh：

Substances：
Prednisolone

Year: 1993 PMID： 8444247 DOI： 10.1007/bf01956148

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

7 in total

1. Case for Diagnosis.

Authors: E A Cockayne
Journal: Proc R Soc Med Date: 1920

2. High-dose intravenous methylprednisolone therapy for anemia associated with diaphyseal dysplasia.

Authors: S Ozsoylu
Journal: J Pediatr Date: 1989-05 Impact factor: 4.406

3. Progessive diaphyseal dysplasia. Review of the literature and report of seven cases in one family.

Authors: J D Hundley; F C Wilson
Journal: J Bone Joint Surg Am Date: 1973-04 Impact factor: 5.284

4. Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature.

Authors: R S Sparkes; C B Graham
Journal: J Med Genet Date: 1972-03 Impact factor: 6.318

5. Corticosteroids in the treatment of Engelmann's disease: progressive diaphyseal dysplasia.

Authors: D T Allen; A M Saunders; W H Northway; G F Williams; I A Schafer
Journal: Pediatrics Date: 1970-10 Impact factor: 7.124

6. Engelmann's disease of bone--a systemic disorder?

Authors: A J Crisp; D P Brenton
Journal: Ann Rheum Dis Date: 1982-04 Impact factor: 19.103

7. Diaphyseal dysplasia associated with anemia.

Authors: S P Ghosal; A K Mukherjee; D Mukherjee; A K Ghosh
Journal: J Pediatr Date: 1988-07 Impact factor: 4.406

7 in total

5 in total

Ghosal haemato-diaphyseal dysplasia: a new disorder.

1. Case for Diagnosis.

2. High-dose intravenous methylprednisolone therapy for anemia associated with diaphyseal dysplasia.

3. Progessive diaphyseal dysplasia. Review of the literature and report of seven cases in one family.

4. Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature.

5. Corticosteroids in the treatment of Engelmann's disease: progressive diaphyseal dysplasia.

6. Engelmann's disease of bone--a systemic disorder?

7. Diaphyseal dysplasia associated with anemia.

1. A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.

2. Ghosal Syndrome--Ten Years Follow-up.

3. Ghosal hematodiaphyseal dysplasia with myelofibrosis.

Review 4. Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient.

Review 5. Ghosal type hemato-diaphyseal dysplasia: a rare variety of Engelmann's disease.