pediatrics
Osteochondrodysplasias (Osteochondrodysplastic Dwarfism)
Diagnosis of Osteochondrodysplasias
X-rays Characteristic x-ray changes may be diagnostic. A whole-body x-ray of every affected neonate, even if stillborn, should be taken because diagnostic precision is essential for predicting prognosis. Prenatal diagnosis by fetoscopy or ultrasonography is possible in some cases (eg, when fetal limb shortening is severe). Standard laboratory tests do not help, but molecular diagnosis is feasible for chondrodysplasias with known molecular defects. Genetic testing is advised if a diagnosis cannot be made based on clinical grounds or if genetic counseling is desired. 