Group of congenital musculoskeletal disorders with similar imaging findings
Most common types are Marfan, Ehlers-Danlos (EDS), Loeys-Dietz syndrome, Stickler syndrome
EDS a.k.a. cutis hyperelastica
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Böker T et al: Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study. Spine J. 19(8):1412-21, 2019
Kirby DJ et al: Spondylolisthesis is common, early, and severe in Loeys-Dietz syndrome. J Pediatr Orthop. 38(8):e455-61, 2018
McArthur N et al: Stickler syndrome in children: a radiological review. Clin Radiol. 73(7):678.e13, 2018
Meester JAN et al: Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Ann Cardiothorac Surg. 6(6):582-94, 2017
Fuhrhop SK et al: High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome. J Bone Joint Surg Am. 97(5):411-9, 2015
Wang B et al: Pelvic pain from a giant presacral Tarlov cyst successfully obliterated using aneurysm clips in a patient with Marfan syndrome. J Neurosurg Spine. 21(5):833-6, 2014
Arnold PM et al: Marfan syndrome and symptomatic sacral cyst: report of two cases. J Spinal Cord Med. 36(5):499-503, 2013
Sznajder M et al: Spinal imaging contributes to the diagnosis of Marfan syndrome. Joint Bone Spine. 77(5):445-50, 2010
Campbell RM Jr: Spine deformities in rare congenital syndromes: clinical issues. Spine (Phila Pa 1976). 34(17):1815-27, 2009
Glard Y et al: Scoliotic curve patterns in patients with Marfan syndrome. J Child Orthop. 2(3):211-6, 2008
Demetracopoulos CA et al: Spinal deformities in Marfan syndrome. Orthop Clin North Am. 38(4):563-72, vii, 2007
Giampietro PF et al: Marfan syndrome: orthopedic and genetic review. Curr Opin Pediatr. 14(1):35-41, 2002
Jones KB et al: Leg-length discrepancy and scoliosis in Marfan syndrome. J Pediatr Orthop. 22(6):807-12, 2002
Nallamshetty L et al: Plain radiography of the lumbosacral spine in Marfan syndrome. Spine J. 2(5):327-33, 2002
Ahn NU et al: Dural ectasia and conventional radiography in the Marfan lumbosacral spine. Skeletal Radiol. 30(6):338-45, 2001
Rose PS et al: Thoracolumbar spinal abnormalities in Stickler syndrome. Spine. 26(4):403-9, 2001
Carter N et al: Bone mineral density in adults with Marfan syndrome. Rheumatology (Oxford). 39(3):307-9, 2000
Herzka A et al: Atlantoaxial rotatory subluxation in patients with Marfan syndrome. A report of three cases. Spine. 25(4):524-6, 2000
Letts M et al: The spinal manifestations of Stickler's syndrome. Spine. 24(12):1260-4, 1999
Villeirs GM et al: Widening of the spinal canal and dural ectasia in Marfan's syndrome: assessment by CT. Neuroradiology. 41(11):850-4, 1999
Hobbs WR et al: The cervical spine in Marfan syndrome. Spine. 22(9):983-9, 1997
Raff ML et al: Joint hypermobility syndromes. Curr Opin Rheumatol. 8(5):459-66, 1996
Raftopoulos C et al: Anterior sacral meningocele and Marfan syndrome: a review. Acta Chir Belg. 93(1):1-7, 1993
Kozlowski K et al: Lumbar platyspondyly--characteristic sign of Ehlers-Danlos syndrome. Skeletal Radiol. 20(8):589-90, 1991
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Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Definitions
Group of congenital musculoskeletal disorders with similar imaging findings
Most common types are Marfan, Ehlers-Danlos (EDS), Loeys-Dietz syndrome, Stickler syndrome
EDS a.k.a. cutis hyperelastica
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Böker T et al: Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study. Spine J. 19(8):1412-21, 2019
Kirby DJ et al: Spondylolisthesis is common, early, and severe in Loeys-Dietz syndrome. J Pediatr Orthop. 38(8):e455-61, 2018
McArthur N et al: Stickler syndrome in children: a radiological review. Clin Radiol. 73(7):678.e13, 2018
Meester JAN et al: Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Ann Cardiothorac Surg. 6(6):582-94, 2017
Fuhrhop SK et al: High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome. J Bone Joint Surg Am. 97(5):411-9, 2015
Wang B et al: Pelvic pain from a giant presacral Tarlov cyst successfully obliterated using aneurysm clips in a patient with Marfan syndrome. J Neurosurg Spine. 21(5):833-6, 2014
Arnold PM et al: Marfan syndrome and symptomatic sacral cyst: report of two cases. J Spinal Cord Med. 36(5):499-503, 2013
Sznajder M et al: Spinal imaging contributes to the diagnosis of Marfan syndrome. Joint Bone Spine. 77(5):445-50, 2010
Campbell RM Jr: Spine deformities in rare congenital syndromes: clinical issues. Spine (Phila Pa 1976). 34(17):1815-27, 2009
Glard Y et al: Scoliotic curve patterns in patients with Marfan syndrome. J Child Orthop. 2(3):211-6, 2008