Summary Klippel-Fiel Syndrome is a rare congenital condition caused by failure of normal segmentation or formation of cervical somites during embryological development that leads to abnormalities in multiple cervical segments. Diagnosis is made from physical examination, medical history and imaging findings including congenital fusion of 2 or more cervical vertebrae. Treatment is usually observation with restriction of contact sports if the anomaly extends proximal to C2. Surgical management is indicated in the presence of myelopathy, basilar invagination, or atlantoaxial instability. Etiology Pathophysiology mechanism due to failure of normal segmentation or formation of cervical somites at 3-8 weeks' gestation Genetics SGM1 gene (Chr 8) Notch and Pax genes Associated conditions orthopedic conditions congenital scoliosis Sprengel's deformity (30%) medical conditions & comorbidities renal disease (aplasia in 33%) auditory issues (deafness in 30%) congenital heart disease/cardiovascular (15-30%) brainstem abnormalities/basilar invagination congenital cervical stenosis MRI to rule out intraspinal cord abnormalities atlantoaxial instability (~50%) adjacent level disease (100%) degeneration of adjacent segments of cervical spine that has not fused is common due to increased stress Classification KFS classification KFS classification Type I Extensive fusion of most or all of the cervical spine Type II Fusion or only 1 or 2 vertebrae in the cervical spine Type III Fusion exists in part of the thoracic and/or lumbar spine, in addition to Type I or Type II KFS Despite this original classification, none is widely accepted extent and locations of fusions is important fusions above C3 more likely to be symptomatic and require abstaining from contact sports fusions below C3 less likely to be symptomatic and most likely to have a normal life span Presentation Symptoms stiff neck Physical exam inspection classic triad (seen in fewer than 50%) low posterior hairline short webbed neck limited cervical ROM other findings high scapula (Sprengel Deformity) jaw anomalies partial loss of hearing torticollis scoliosis Imaging Radiographs recommended views AP, lateral, and odontoid views findings fusion may be craniocervical (occiput to C2), subaxial, or both basilar invagination is seen on lateral view defined as dens elevation above McRae's line atlantoaxial instability is present when the atlanto dens interval (ADI) is >5 mm cervical spinal canal stenosis is seen when spinal cord canal <13 mm degnerative changes degnerative disease of the cervical spine is seen in 100% calcifications calcifications may be seen within the intervertebral space resolution within 6 months is common Differential congenital scoliosis postinfection/spine inflammatory disorders Mayer-Rokitansky-Kaster syndrome Sprengel's deformity Treatment Nonoperative observation with ability to participate in contact/collision sports indications asymptomatic patients with fusions of 1-2 disc spaces below C3 observation and abstain from contact/collision sports indications asymptomatic patients with fusion involving C2 most common presentation long fusions modalities counseling important to avoid activities that place the neck at high risk of injury contact sports, gymnastics, football, wrestling, trampoline, etc Operative surgical decompression and fusion indications basilar invagination chronic pain myelopathy associated atlantoaxial instability adjacent level disease if symptomatic
QUESTIONS 1 of 2 1 2 Previous Next (OBQ20.178) A 14-year-old female presents to your office for a sports physical before lacrosse season begins. She is healthy overall, with her only complaint being intermittent neck stiffness. On evaluation you note limited cervical range of motion and a subtle webbed appearance to the neck. Cervical radiographs are ordered as seen in Figures A & B. Given these findings, what is the most appropriate advice regarding clearance for sports participation? QID: 215589 FIGURES: A B Type & Select Correct Answer 1 Cleared to return to sport after course of physical therapy 1% (7/1237) 2 Cleared for full contact activity immediately 3% (34/1237) 3 Refrain from returning to any contact sports 64% (795/1237) 4 Refrain from contact sports until MRI can confirm there are no associated spinal cord abnormalities 30% (373/1237) 5 Refrain from contact sports until 6 months after posterior spinal fusion 2% (21/1237) L 3 Question Complexity E Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 3 Review Tested Concept Review Full Topic (OBQ11.117) The 10-year-old boy shown in Figures A-B wishes to participate in junior football. A cervical spine CT scan is shown in Figure C. His renal evaluation shows unilateral renal aplasia and his cardiac evaluation is normal. What is his most likely diagnosis and the most appropriate corresponding medical clearance decision for playing football? QID: 3540 FIGURES: A B C Type & Select Correct Answer 1 Klippel-Feil syndrome with no participation in contact sports 82% (3696/4480) 2 Down's syndrome with no participation in contact sports 2% (112/4480) 3 Holt-Oram syndrome with no participation in contact sports 5% (240/4480) 4 Down's syndrome with full participation in contact sports only following skeletal maturity 1% (37/4480) 5 Klippel-Feil syndrome with full participation in contact sports only following skeletal maturity 8% (366/4480) L 3 Question Complexity C Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 1 Review Tested Concept Review Full Topic
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