Larger than normal collagen fibrils have been extracted from the cartilage matrix in these patients. Other micromelic skeletal dysplasias and pseudodiastrophic dysplasia. Increased perinatal mortality due to respiratory problems and high incidence of neurological complications secondary to spine anomalies. Severe physical handicap is typical with attendant problems in psychosocial adaptation. Early prenatal diagnosis offers the option of pregnancy termination.
Perinatal management involves close monitoring for respiratory complications.
Orthopedic intervention is often required for correction or stabilization of skeletal deformities. We report the findings in a case of diastrophic dysplasia. Biometry at this time showed a short femur. She was then referred to our institution for a Level II sonogram at 20 weeks' gestation as determined by her last menstrual period. There was no family history of dwarfism.