Familial synspondylism: Progressive scoliosis and multiple hernias in a kinship

A new genetic syndrome is reported of congenital lordoscoliosis due to lumb ar segmentation defects and incomplete formation of lumbar vertebrae. The d efect arose as a spontaneous mutation and was transmitted in an autosomal d ominant fashion. The kindred included a mother and her three offspring. The se affected individuals had several dysmorphic features including cavus fee t and micrognathia. In addition the syndrome was associated with multiple h ernias including inguinal, ventral, and diaphragmatic. These associated pro blems led to the early death of the first child at age 7 months. The lumbar scoliosis was already evident by that time. The progressive nature of the scoliosis was documented, especially in one child who was lost to follow-up and who was initially seen with a severe spinal deformity. Surgical manage ment was required in members of the kindred, but because of differences in age and severity at the time of surgery, the techniques varied.