Autosomal dominant dwarfism affecting spine and extremities
OMIM #100800
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Nonvascular Interventions
Imaging Recommendations
Ultrasonographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Ceroni JRM et al: Natural history of 39 patients with Achondroplasia. Clinics (Sao Paulo). 73:e324, 2018
Yecies D et al: Safety of dynamic magnetic resonance imaging of the cervical spine in children performed without neurosurgical supervision. World Neurosurg. 116:e1188-e93, 2018
Calandrelli R et al: Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia. Neuroradiology. 59(10):1031-41, 2017
Ahmed M et al: The natural history of thoracolumbar kyphosis in achondroplasia. Eur Spine J. ePub, 2016
Khan BI et al: Prevalence of scoliosis and thoracolumbar kyphosis in patients with achondroplasia. Spine Deform. 4(2):145-8, 2016
Mukherjee D et al: Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series. J Neurosurg Pediatr. 14(3):238-44, 2014
Borkhuu B et al: Factors related to progression of thoracolumbar kyphosis in children with achondroplasia: a retrospective cohort study of forty-eight children treated in a comprehensive orthopaedic center. Spine (Phila Pa 1976). 34(16):1699-705, 2009
Srikumaran U et al: Pedicle and spinal canal parameters of the lower thoracic and lumbar vertebrae in the achondroplast population. Spine (Phila Pa 1976). 32(22):2423-31, 2007
Keny SM et al: Morphometric determinants of the sagittal dimensions of the cervical spinal canal in achondroplasia: an analysis of the reliability of the Torg ratio. J Spinal Disord Tech. 19(7):523-7, 2006
Park HW et al: Correction of lumbosacral hyperlordosis in achondroplasia. Clin Orthop. (414):242-9, 2003
Tanaka N et al: The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. Endocr J. 50(1):69-75, 2003
Thomeer RT et al: Surgical treatment of lumbar stenosis in achondroplasia. J Neurosurg. 96(3 Suppl):292-7, 2002
Gordon N: The neurological complications of achondroplasia. Brain Dev. 22(1):3-7, 2000
Keiper GL Jr et al: Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg. 31(2):78-83, 1999
Lemyre E et al: Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J. 50(3):185-97, 1999
Lachman RS: Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective. Am J Med Genet. 69(1):33-43, 1997
Taybi H et al: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th ed. St. Louis: Mosby. 748-55, 1996
Hall JG: Information update on Achondroplasia. Pediatrics. 95(4):620, 1995
Ryken TC et al: Cervicomedullary compression in achondroplasia. J Neurosurg. 81(1):43-8, 1994
Hecht JT et al: Neurologic morbidity associated with achondroplasia. J Child Neurol. 5(2):84-97, 1990
Fortuna A et al: Narrowing of thoraco-lumbar spinal canal in achondroplasia. J Neurosurg Sci. 33(2):185-96, 1989
Kao SC et al: MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia. AJR Am J Roentgenol. 153(3):565-9, 1989
Thomas IT et al: Magnetic resonance imaging in the assessment of medullary compression in achondroplasia. Am J Dis Child. 142(9):989-92, 1988
Beighton P et al: Gibbal achondroplasia. J Bone Joint Surg Br. 63-B(3):328-9, 1981
Related Anatomy
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References
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Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
Achondroplastic dwarfism
Definitions
Autosomal dominant dwarfism affecting spine and extremities
OMIM #100800
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Nonvascular Interventions
Imaging Recommendations
Ultrasonographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Ceroni JRM et al: Natural history of 39 patients with Achondroplasia. Clinics (Sao Paulo). 73:e324, 2018
Yecies D et al: Safety of dynamic magnetic resonance imaging of the cervical spine in children performed without neurosurgical supervision. World Neurosurg. 116:e1188-e93, 2018
Calandrelli R et al: Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia. Neuroradiology. 59(10):1031-41, 2017
Ahmed M et al: The natural history of thoracolumbar kyphosis in achondroplasia. Eur Spine J. ePub, 2016
Khan BI et al: Prevalence of scoliosis and thoracolumbar kyphosis in patients with achondroplasia. Spine Deform. 4(2):145-8, 2016
Mukherjee D et al: Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series. J Neurosurg Pediatr. 14(3):238-44, 2014
Borkhuu B et al: Factors related to progression of thoracolumbar kyphosis in children with achondroplasia: a retrospective cohort study of forty-eight children treated in a comprehensive orthopaedic center. Spine (Phila Pa 1976). 34(16):1699-705, 2009
Srikumaran U et al: Pedicle and spinal canal parameters of the lower thoracic and lumbar vertebrae in the achondroplast population. Spine (Phila Pa 1976). 32(22):2423-31, 2007
Keny SM et al: Morphometric determinants of the sagittal dimensions of the cervical spinal canal in achondroplasia: an analysis of the reliability of the Torg ratio. J Spinal Disord Tech. 19(7):523-7, 2006
Park HW et al: Correction of lumbosacral hyperlordosis in achondroplasia. Clin Orthop. (414):242-9, 2003
Tanaka N et al: The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. Endocr J. 50(1):69-75, 2003
Thomeer RT et al: Surgical treatment of lumbar stenosis in achondroplasia. J Neurosurg. 96(3 Suppl):292-7, 2002
Gordon N: The neurological complications of achondroplasia. Brain Dev. 22(1):3-7, 2000
Keiper GL Jr et al: Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg. 31(2):78-83, 1999
Lemyre E et al: Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J. 50(3):185-97, 1999
Lachman RS: Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective. Am J Med Genet. 69(1):33-43, 1997
Taybi H et al: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th ed. St. Louis: Mosby. 748-55, 1996
Hall JG: Information update on Achondroplasia. Pediatrics. 95(4):620, 1995
Ryken TC et al: Cervicomedullary compression in achondroplasia. J Neurosurg. 81(1):43-8, 1994
Hecht JT et al: Neurologic morbidity associated with achondroplasia. J Child Neurol. 5(2):84-97, 1990
Fortuna A et al: Narrowing of thoraco-lumbar spinal canal in achondroplasia. J Neurosurg Sci. 33(2):185-96, 1989
Kao SC et al: MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia. AJR Am J Roentgenol. 153(3):565-9, 1989
Thomas IT et al: Magnetic resonance imaging in the assessment of medullary compression in achondroplasia. Am J Dis Child. 142(9):989-92, 1988
Beighton P et al: Gibbal achondroplasia. J Bone Joint Surg Br. 63-B(3):328-9, 1981
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