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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
- Pseudoachondroplastic dysplasia
- Pseudoachondroplastic spondyloepiphyseal dysplasia
IMAGING
General Features
Radiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
- Weiner DS et al: Orthopaedic manifestations of pseudoachondroplasia. J Child Orthop. 13(4):409-16, 2019
- Posey KL et al: Chondrocyte-specific pathology during skeletal growth and therapeutics in a murine model of pseudoachondroplasia. J Bone Miner Res. 29(5):1258-68, 2014
- Jackson GC et al: Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat. 33(1):144-57, 2012
- Muensterer OJ et al: Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz. Pediatr Radiol. 42(4):475-80, 2012
- Khungar A et al: Pseudoachondroplastic dysplasia. J Postgrad Med. 39(2):91-3, 1993
- Heselson NG et al: Pseudoachondroplasia, a report of 13 cases. Br J Radiol. 50(595):473-82, 1977
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
- Pseudoachondroplastic dysplasia
- Pseudoachondroplastic spondyloepiphyseal dysplasia
IMAGING
General Features
Radiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
- Weiner DS et al: Orthopaedic manifestations of pseudoachondroplasia. J Child Orthop. 13(4):409-16, 2019
- Posey KL et al: Chondrocyte-specific pathology during skeletal growth and therapeutics in a murine model of pseudoachondroplasia. J Bone Miner Res. 29(5):1258-68, 2014
- Jackson GC et al: Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat. 33(1):144-57, 2012
- Muensterer OJ et al: Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz. Pediatr Radiol. 42(4):475-80, 2012
- Khungar A et al: Pseudoachondroplastic dysplasia. J Postgrad Med. 39(2):91-3, 1993
- Heselson NG et al: Pseudoachondroplasia, a report of 13 cases. Br J Radiol. 50(595):473-82, 1977
