Sclerosing Bone Dysplasia Affecting the Mandible: a Rare but Distinctive Skeletal Abnormality

2018 ◽  
Vol 126 (3) ◽  
pp. e100
Author(s):  
Jorge Esquiche León ◽  
Luciana Yamamoto Almeida ◽  
Rafael Augusto Ferreira ◽  
Lucas Ribeiro Teixeira ◽  
Rodrigo Neves-Silva ◽  
...  
Keyword(s):  
Bone Dysplasia ◽  
Skeletal Abnormality ◽  
Sclerosing Bone Dysplasia

Mixed sclerosing bone dysplasia—a case report with literature review

2003 ◽  
Vol 27 (3) ◽  
pp. 203-205 ◽  
Author(s):  
Sandeep Ghai ◽  
Raju Sharma ◽  
Sangeet Ghai
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Bone Dysplasia ◽  
Sclerosing Bone Dysplasia

Melorheostosis: a rare sclerosing bone dysplasia. Usefulness of bone scintigraphy

2019 ◽  
Vol 38 (4) ◽  
pp. 243-244
Author(s):  
E.R. Marqués Aparicio ◽  
J. Dolado Ardit ◽  
A. Crespo-Jara ◽  
A. Martínez Caballero ◽  
M.A. Antón Leal ◽  
...  
Keyword(s):  
Bone Scintigraphy ◽  
Bone Dysplasia ◽  
Sclerosing Bone Dysplasia

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

Bone ◽  
2014 ◽  
Vol 68 ◽  
pp. 142-145 ◽  
Author(s):  
Marie-Hélène Gannagé-Yared ◽  
Periklis Makrythanasis ◽  
Eliane Chouery ◽  
Cristina Sobacchi ◽  
Cybel Mehawej ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Bone Dysplasia ◽  
Sclerosing Bone Dysplasia

Melorheostosis: a Rare Sclerosing Bone Dysplasia

2017 ◽  
Vol 15 (4) ◽  
pp. 335-342 ◽  
Author(s):  
Anupam Kotwal ◽  
Bart L. Clarke
Keyword(s):  
Bone Dysplasia ◽  
Sclerosing Bone Dysplasia

Sclerosing Bone Dysplasia

Orthopedics ◽  
1981 ◽  
Vol 4 (1) ◽  
pp. 100-100
Author(s):  
Wilton H Bunch
Keyword(s):  
Bone Dysplasia ◽  
Sclerosing Bone Dysplasia

scholarly journals A new familial sclerosing bone dysplasia

2010 ◽  
Vol 25 (3) ◽  
pp. 676-680 ◽  
Author(s):  
Eliane Chouery ◽  
Alessandra Pangrazio ◽  
Annalisa Frattini ◽  
Anna Villa ◽  
Liesbeth Van Wesenbeeck ◽  
...  
Keyword(s):  
Bone Dysplasia ◽  
Sclerosing Bone Dysplasia

scholarly journals Sclerosteosis: A Rare, Sclerosing Bone Dysplasia in a Bangladeshi Male

2019 ◽  
Vol 1 (2) ◽  
pp. 35-40
Author(s):  
Shahed Morshed ◽  
Keyword(s):  
Clinical Features ◽  
Multidisciplinary Team ◽  
Bone Dysplasia ◽  
Team Approach ◽  
Separate Entity ◽  
Multidisciplinary Team Approach ◽  
Sclerosing Bone Dysplasia

We report a 26-year-old male who was initially diagnosed as osteopetrosis and referred for endocrine evaluations. But due to specific clinical features supported by investigations, we diagnosed the case as sclerosteosis. The patient was managed by a multidisciplinary team approach. Sclerosteosis may be erroneously diagnosed as osteopetrosis. However, many unique features make it a separate entity.

A rare sclerosing bone dysplasia

2019 ◽  
Author(s):  
Helen Casey ◽  
Angus Stirling ◽  
Stephen Gallacher ◽  
Andrew Gallagher
Keyword(s):  
Bone Dysplasia ◽  
Sclerosing Bone Dysplasia

An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia

2020 ◽  
Vol 105 (3) ◽  
pp. 688-695 ◽  
Author(s):  
Hui Peng ◽  
Zandra A Jenkins ◽  
Ruby White ◽  
Sam Connors ◽  
Matthew F Hunter ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
De Novo ◽  
Bone Development ◽  
Bone Dysplasia ◽  
Adrenocortical Adenoma ◽  
Gain Of Function ◽  
Sclerosing Bone Dysplasia ◽  
Whole Exome ◽  
De Novo Variant

Abstract Context The WNT/β-catenin pathway is central to the pathogenesis of various human diseases including those affecting bone development and tumor progression. Objective To evaluate the role of a gain-of-function variant in CTNNB1 in a child with a sclerosing bone dysplasia and an adrenocortical adenoma. Design Whole exome sequencing with corroborative biochemical analyses. Patients We recruited a child with a sclerosing bone dysplasia and an adrenocortical adenoma together with her unaffected parents. Intervention Whole exome sequencing and performance of immunoblotting and luciferase-based assays to assess the cellular consequences of a de novo variant in CTNNB1. Main Outcome Measure(s)/Result A de novo variant in CTNNB1 (c.131C>T; p.[Pro44Leu]) was identified in a patient with a sclerosing bone dysplasia and an adrenocortical adenoma. A luciferase-based transcriptional assay of WNT signaling activity verified that the activity of β-catenin was increased in the cells transfected with a CTNNB1p.Pro44Leu construct (P = 4.00 × 10–5). The β-catenin p.Pro44Leu variant was also associated with a decrease in phosphorylation at Ser45 and Ser33/Ser37/Thr41 in comparison to a wild-type (WT) CTNNB1 construct (P = 2.16 × 10–3, P = 9.34 × 10–8 respectively). Conclusion Increased β-catenin activity associated with a de novo gain-of-function CTNNB1 variant is associated with osteosclerotic phenotype and adrenocortical neoplasia.

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