Familial synspondylism: progressive scoliosis and multiple hernias in a kinship

A new genetic syndrome is reported of congenital lordoscoliosis due to lumbar segmentation defects and incomplete formation of lumbar vertebrae. The defect arose as a spontaneous mutation and was transmitted in an autosomal dominant fashion. The kindred included a mother and her three offspring. These affected individuals had several dysmorphic features including cavus feet and micrognathia. In addition the syndrome was associated with multiple hernias including inguinal, ventral, and diaphragmatic. These associated problems 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 management was required in members of the kindred, but because of differences in age and severity at the time of surgery, the techniques varied.