Rolland-Desbuquois Type is a milder form of Dyssegmental Dysplasia. It is characterised by increased variability in the size of vertebral bodies and abnormal shortening of limbs.
Miething et al. (1981) reported two cases of dyssegmental dysplasia with Pierre-Robin-Syndrome, Camptomicromelia and Anisospondyly. The newborns died of asphyxia post delivery.
Svejcar (1983) reported abnormal gel electrophoretic patterns of collagen peptides in a patient with dyssegmental dysplasia indicating a deficiency in alpha-1 chains.
[See also: Jordan > Svejcar (1983)].