Approach to skeletal dysplasia.
The mystique of skeletal dysplasias is gradually vanishing. Many more physicians are being taught about disorders of disproportionate shortness. The classification system is more practical, and the genetics of these individually uncommon disorders is better established. Metabolic studies will continue to identify the basic defect in these previously hard to get at disorders, allowing for prenatal diagnosis, carrier detection, and treatment. Advances such as bone marrow transplant, bone lengthening, and the encouraging positive effects of growth hormone therapy are exciting new interventions to aid the disproportionately short statured person. The scenario is set for clinicians to become effective participants in the realm of skeletal dysplasias, but it all starts with an accurate diagnosis.
Hall
B D
BD
Department of Pediatrics, University of Kentucky, Lexington.
D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000145:classification / Q000175:diagnosis*