Literature DB >> 3385529

Diaphyseal dysplasia associated with anemia.

S P Ghosal1, A K Mukherjee, D Mukherjee, A K Ghosh.   

Abstract

Five patients in early childhood had moderate to marked anemia and clinically demonstrable thick long bones of the extremities with radiologic features of diaphyseal dysplasia. Although the anemia was persistent and not responsive to hematinics, prednisolone was administered to two of these patients and caused remarkable improvement of the anemia in both. Roentgenologic examination carried out after 1 year of corticosteroid therapy in one patient and after 11 years in another showed considerable improvement of the bony changes. The clinical and radiologic examinations of these patients and their follow-up study suggest that they may constitute an unusual group of patients with diaphyseal dysplasia associated with anemia, hitherto not well defined.

Entities:  

Mesh:

Year:  1988        PMID: 3385529     DOI: 10.1016/s0022-3476(88)80527-4

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  15 in total

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

Authors:  B Isidor; N Dagoneau; C Huber; D Genevieve; B Bader-Meunier; S Blanche; C Picard; M C De Vernejoul; A Munnich; M Le Merrer; V Cormier-Daire
Journal:  Hum Genet       Date:  2007-01-03       Impact factor: 4.132

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

Authors:  Rakesh Mondal; Archan Sil; Shankha Subhra Nag; Tapas Sabui
Journal:  Indian J Pediatr       Date:  2015-01-20       Impact factor: 1.967

3.  Ghosal hematodiaphyseal dysplasia with myelofibrosis.

Authors:  Kalpana Datta; Madan Karmakar; Michael Hira; Sanjay Halder; Koushik Pramanik; Goutam Banerjee
Journal:  Indian J Pediatr       Date:  2012-09-15       Impact factor: 1.967

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

Authors:  Richa Arora; Shagun Aggarwal; Swaroopa Deme
Journal:  Skeletal Radiol       Date:  2014-08-30       Impact factor: 2.199

5.  Ghosal Hemato-diaphyseal Dysplasia: A Rare Variety of Hypoplastic Anemia with Good Response to Steroid Therapy.

Authors:  Pushpa Gurudas Kini; Sandeep Kumar; Adel Moideen; Adarsh Tulasidhar Narain
Journal:  Indian J Hematol Blood Transfus       Date:  2017-04-17       Impact factor: 0.900

6.  Ghosal haemato-diaphyseal dysplasia: a new disorder.

Authors:  F Gümrük; A Besim; C Altay
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183

Review 7.  The Radiograph of the Pelvis as a Window to Skeletal Dysplasias.

Authors:  Vijayalakshmi Gajarajulu; Balakrishnan Natarajan; S Muralinath
Journal:  Indian J Pediatr       Date:  2016-01-29       Impact factor: 1.967

8.  Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids.

Authors:  Sun Young Kim; Alexander Ing; Shunyou Gong; Kai Lee Yap; Rukhmi Bhat
Journal:  Mol Genet Genomic Med       Date:  2021-02-17       Impact factor: 2.183

9.  Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.

Authors:  Michael P Whyte; William G Totty; Deborah V Novack; Xiafang Zhang; Deborah Wenkert; Steven Mumm
Journal:  J Bone Miner Res       Date:  2011-05       Impact factor: 6.741

Review 10.  Friend or foe: high bone mineral density on routine bone density scanning, a review of causes and management.

Authors:  Celia L Gregson; Sarah A Hardcastle; Cyrus Cooper; Jonathan H Tobias
Journal:  Rheumatology (Oxford)       Date:  2013-02-27       Impact factor: 7.580

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.