Literature DB >> 26898950

Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders.

Cedric Boulet1, Hardi Madani2, Leon Lenchik3, Filip Vanhoenacker4, Deepak S Amalnath5, Johan de Mey1, Michel De Maeseneer1.   

Abstract

There is a wide variety of hereditary and non-hereditary bone dysplasias, many with unique radiographic findings. Hereditary bony dysplasias include osteopoikilosis, osteopathia striata, osteopetrosis, progressive diaphyseal dysplasia, hereditary multiple diaphyseal sclerosis and pyknodysostosis. Non-hereditary dysplasias include melorheostosis, intramedullary osteosclerosis and overlap syndromes. Although many of these dysplasias are uncommon, radiologists should be familiar with their genetic, clinical and imaging findings to allow for differentiation from acquired causes of bony sclerosis. We present an overview of hereditary and non-hereditary bony dysplasias with focus on the pathogenesis, clinical and radiographic findings of each disorder.

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Year:  2016        PMID: 26898950      PMCID: PMC5258139          DOI: 10.1259/bjr.20150349

Source DB:  PubMed          Journal:  Br J Radiol        ISSN: 0007-1285            Impact factor:   3.039


  26 in total

Review 1.  Osteopoikilosis: what does the rheumatologist must know about it?

Authors:  Tiago Geraldo Woyciechowsky; Márcio Rafael Monticielo; Briele Keiserman; Odirlei Andre Monticielo
Journal:  Clin Rheumatol       Date:  2012-01-14       Impact factor: 2.980

Review 2.  Sclerosing bone dysplasias--a target-site approach.

Authors:  A Greenspan
Journal:  Skeletal Radiol       Date:  1991       Impact factor: 2.199

3.  Ribbing disease: radiographic and biochemical characterization, lack of response to pamidronate.

Authors:  Navid Ziran; Suvimol Hill; Mary E Wright; Joseph Kovacs; Pamela Gehron Robey; Shlomo Wientroub; Michael T Collins
Journal:  Skeletal Radiol       Date:  2002-08-15       Impact factor: 2.199

Review 4.  Ribbing disease (multiple diaphyseal sclerosis): a case report and literature review.

Authors:  Lin Lin Zhang; Wei Ming Jiang; Xue Feng Li; Jing Yuan; Hui Lin Yang
Journal:  J Orthop Sci       Date:  2011-08-10       Impact factor: 1.601

Review 5.  Classical and unusual imaging appearances of melorheostosis.

Authors:  S Suresh; T Muthukumar; A Saifuddin
Journal:  Clin Radiol       Date:  2010-04-18       Impact factor: 2.350

6.  An atypical subtrochanteric femoral fracture from pycnodysostosis: a lesson from nature.

Authors:  Christopher J Yates; Miriam J Bartlett; Peter R Ebeling
Journal:  J Bone Miner Res       Date:  2011-06       Impact factor: 6.741

Review 7.  Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis.

Authors:  Lauren L Ihde; Deborah M Forrester; Christopher J Gottsegen; Sulabha Masih; Dakshesh B Patel; Linda A Vachon; Eric A White; George R Matcuk
Journal:  Radiographics       Date:  2011 Nov-Dec       Impact factor: 5.333

8.  Intramedullary osteosclerosis: imaging features in nine patients.

Authors:  K Chanchairujira; C B Chung; Y M Lai; P Haghighi; D Resnick
Journal:  Radiology       Date:  2001-07       Impact factor: 11.105

9.  Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers.

Authors:  Antoon H van Lierop; Neveen A T Hamdy; Martje E van Egmond; Egbert Bakker; Freek G Dikkers; Socrates E Papapoulos
Journal:  J Bone Miner Res       Date:  2013-04       Impact factor: 6.741

Review 10.  Osteopetrosis: genetics, treatment and new insights into osteoclast function.

Authors:  Cristina Sobacchi; Ansgar Schulz; Fraser P Coxon; Anna Villa; Miep H Helfrich
Journal:  Nat Rev Endocrinol       Date:  2013-07-23       Impact factor: 43.330

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  4 in total

Review 1.  Axial Spondyloarthritis: Mimics and Pitfalls of Imaging Assessment.

Authors:  António Proença Caetano; Vasco V Mascarenhas; Pedro M Machado
Journal:  Front Med (Lausanne)       Date:  2021-04-22

2.  Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series.

Authors:  Yoon-Myung Kim; Eungu Kang; Jin-Ho Choi; Gu-Hwan Kim; Han-Wook Yoo; Beom Hee Lee
Journal:  Medicine (Baltimore)       Date:  2018-04       Impact factor: 1.889

Review 3.  Imaging features and differential diagnosis of multiple diaphyseal sclerosis: A case report and review of literature.

Authors:  Yangting Cai; Haixiong Lin; Feng Huang; Xiaohui Zheng; Yaohua Huang; Shuncong Zhang
Journal:  Medicine (Baltimore)       Date:  2018-08       Impact factor: 1.889

4.  Result of cementless total hip arthroplasty in a patient with osteopoikilosis, hip dysplasia and advanced osteoarthritis: a case report.

Authors:  Yao-Yuan Chang; Wei-Hsin Lin
Journal:  BMC Musculoskelet Disord       Date:  2021-04-22       Impact factor: 2.362

  4 in total

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