PMC4602962_01
Magnetic resonance T2-weighted images. (A) Fusion of cervical vertebrae at the C2-C3 level, syringomyelia in the cervical spine (C6-C7 level). (B) Widened spinal central canal in the cervical and upper thoracic regions.
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F1
(A) Coronal reformat of CT examination. Platybasia-odontoid process is above bimastoid line. Also note atlantooccipital assimilation (arrowheads) and assimilation of C2 and C3 (arrows). (B) Sagittal reformat of CT examination. Platybasia:angle of skull base is 155 degrees, odontoid process is 25 mm above Chamberlain line. Assimilation of C2 and C3 (arrow). CT = computed tomography.
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F2
Pedigree of the reported KFS and ALS family. ALS = amyotrophic lateral sclerosis, KFS = Klippel-Feil syndrome.
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F3
The patient's brother has Chiari I malformation and KFS phenotype type I without vertebral fusion and with no signs of lower motor neuron involvement (Figure 3).