Shortening is greatest proximally or at root (meaning humerus, femur)
Most common nonlethal short-limbed skeletal dysplasia
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
Related Anatomy
Loading...
Related Differential Diagnoses
Loading...
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
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
STATdx includes over 200,000 searchable images, including x-ray, CT, MR, and ultrasound images. To access all images, please log in or subscribe.