The Journal of Bone and Joint Surgery, Vol 77, Issue 6 867-876, Copyright © 1995 by Journal of Bone and Joint Surgery, Inc
The thoracolumbar spine in Marfan syndrome
PD Sponseller, W Hobbs, LH Riley and RE Pyeritz
Johns Hopkins Medical Institutions, Baltimore, Maryland 21287, USA.
We analyzed the prevalence, inheritance, progression, and functional
implications of spinal deformity in Marfan syndrome using four different
groups of patients. We studied 113 patients who had Marfan syndrome,
eighty-two of whom were skeletally immature, in order to characterize the
alignment and function of the spine. The patients were selected from a
clinic that provides total care with no bias toward the presence of
orthopaedic conditions. Scoliosis was identified in fifty-two of the
eighty-two patients, and the prevalences for the sexes were equal. The
thoracic portion of the curve was convex to the right in all but two
patients. The mean kyphosis was greater than that in the general
population. Five distinct sagittal profiles were identified on the basis of
whether the thoracic kyphosis was within, greater than, or less than normal
limits and whether the transition between the kyphosis and lordosis
occurred at or caudad to the normal level or whether the curves were
reversed. Spondylolisthesis was present in five patients (6 per cent), with
a mean slip of 30 per cent. Fourteen pedigrees were studied in depth. There
was no familial pattern of the scoliosis. A separate group of fifty-six
patients with scoliosis, for whom serial follow-up radiographs were
available, was studied for progression. Patients who had a curve of more
than 30 degrees had mild progression, and those who had a curve of more
than 50 degrees had marked progression (mean, 3 +/- 4 degrees per year).
Pain and function of the back were studied in thirty patients who were
thirty-five to forty-five years old; these patients were found to be more
impaired than matched controls. The presence of scoliosis was associated
with pain in the region of the curve in these patients.
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