Population
9 patients with rigid spine syndrome, disease onset before age 6 years.
Design
Case_series
Authors
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May warrant cardiac/pulmonary screening in rigid spine syndrome; extends phenotypic spectrum but leaves open distinct entity status.
Describes a novel vacuolar variant of rigid spine syndrome characterized by specific histological features, early onset, and associated cardiac and pulmonary complications.
Lotz et al. (1993) studied this question.
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