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Musculoskeletal
Diagnosis
Non-Trauma
Dysplasias
Sclerosing Dysplasias
Pycnodysostosis
Pycnodysostosis
Cheryl A. Petersilge, MD, MBA
;
Nancy A. Chauvin, MD
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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
Toulouse-Lautrec syndrome
Definitions
Lysosomal storage disease resulting in dense, brittle bones
IMAGING
General Features
Imaging Recommendations
Radiographic Findings
CT Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Treatment
Selected References
Omer Sulaiman H et al: Pycnodysostosis: a growth hormone responsive skeletal dysplasia. AACE Clin Case Rep. 7(4):231-5, 2021
S R et al: Osteomyelitis in pycnodysostosis - report of 2 clinical cases. J Clin Diagn Res. 9(1):ZD15-7, 2015
Yates CJ et al: An atypical subtrochanteric femoral fracture from pycnodysostosis: a lesson from nature. J Bone Miner Res. 26(6):1377-9, 2011
Bathi RJ et al: Pyknodysostosis—a report of two cases with a brief review of the literature. Int J Oral Maxillofac Surg. 29(6):439-42, 2000
Vanhoenacker FM et al: Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol. 10(9):1423-33, 2000
Mills KL et al: Pycnodysostosis. J Med Genet. 25(8):550-3, 1988
Beighton P et al: A review of the osteopetroses. Postgrad Med J. 53(622):507-16, 1977
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
Toulouse-Lautrec syndrome
Definitions
Lysosomal storage disease resulting in dense, brittle bones
IMAGING
General Features
Imaging Recommendations
Radiographic Findings
CT Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Treatment
Selected References
Omer Sulaiman H et al: Pycnodysostosis: a growth hormone responsive skeletal dysplasia. AACE Clin Case Rep. 7(4):231-5, 2021
S R et al: Osteomyelitis in pycnodysostosis - report of 2 clinical cases. J Clin Diagn Res. 9(1):ZD15-7, 2015
Yates CJ et al: An atypical subtrochanteric femoral fracture from pycnodysostosis: a lesson from nature. J Bone Miner Res. 26(6):1377-9, 2011
Bathi RJ et al: Pyknodysostosis—a report of two cases with a brief review of the literature. Int J Oral Maxillofac Surg. 29(6):439-42, 2000
Vanhoenacker FM et al: Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol. 10(9):1423-33, 2000
Mills KL et al: Pycnodysostosis. J Med Genet. 25(8):550-3, 1988
Beighton P et al: A review of the osteopetroses. Postgrad Med J. 53(622):507-16, 1977
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