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KEY FACTS
Terminology
Imaging
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
- Dwarf (term being replaced by "dysplasia")
- Little person
Definitions
- Rhizomelic ("root") dwarfism
- Shortening is greatest proximally or at root (meaning humerus, femur)
- Most common nonlethal short-limbed skeletal dysplasia
- Rhizomelic ("root") dwarfism
IMAGING
General Features
Imaging Recommendations
Radiographic Findings
CT Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
- Gilligan LA et al: Fetal magnetic resonance imaging of skeletal dysplasias. Pediatr Radiol. 50(2):224-33, 2020
- Sarioglu FC et al: Neuroimaging and calvarial findings in achondroplasia. Pediatr Radiol. 50(12):1669-79, 2020
- Akyol Y et al: Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia. Pediatr Radiol. 45(6):888-95, 2015
- Bosemani T et al: Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement. Childs Nerv Syst. 31(1):129-33, 2015
- Chitty LS et al: Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. Prenat Diagn. 35(7):656-62, 2015
- Olsen BR: Disease models: statins give bone growth a boost. Nature. 513(7519):494-5, 2014
- Panda A et al: Skeletal dysplasias: a radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol. 6(10):808-25, 2014
- Richette P et al: Achondroplasia: from genotype to phenotype. Joint Bone Spine. 75(2):125-30, 2008
- Wynne-Davies R et al: Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. J Bone Joint Surg Br. 63B(4):508-15, 1981
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
- Dwarf (term being replaced by "dysplasia")
- Little person
Definitions
- Rhizomelic ("root") dwarfism
- Shortening is greatest proximally or at root (meaning humerus, femur)
- Most common nonlethal short-limbed skeletal dysplasia
- Rhizomelic ("root") dwarfism
IMAGING
General Features
Imaging Recommendations
Radiographic Findings
CT Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
- Gilligan LA et al: Fetal magnetic resonance imaging of skeletal dysplasias. Pediatr Radiol. 50(2):224-33, 2020
- Sarioglu FC et al: Neuroimaging and calvarial findings in achondroplasia. Pediatr Radiol. 50(12):1669-79, 2020
- Akyol Y et al: Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia. Pediatr Radiol. 45(6):888-95, 2015
- Bosemani T et al: Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement. Childs Nerv Syst. 31(1):129-33, 2015
- Chitty LS et al: Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. Prenat Diagn. 35(7):656-62, 2015
- Olsen BR: Disease models: statins give bone growth a boost. Nature. 513(7519):494-5, 2014
- Panda A et al: Skeletal dysplasias: a radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol. 6(10):808-25, 2014
- Richette P et al: Achondroplasia: from genotype to phenotype. Joint Bone Spine. 75(2):125-30, 2008
- Wynne-Davies R et al: Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. J Bone Joint Surg Br. 63B(4):508-15, 1981
