Rigid spine syndrome associated with tent-like configuration of the thoracic cage, cerebral lesion and delayed sexual maturation in three patients.

Three male patients with rigid spine syndrome and predominantly proximal myopathy which developed slowly from childhood are described; two cases were sporadic, one possibly hereditary. All three had the same associated signs and symptoms, differing only in degree. They had tent-like thoracic cages with very steeply sloping ribs, reduced anteroposterior diameter and reduced vital capacity. The EGGs were slightly abnormal. All the patients had some cerebral abnormality, in one case of diffuse demyelinating type. All had the signs and symptoms of slightly delayed puberty.