CLINICAL, GENETIC, RADIOLOGICAL, AND ANATOMOPATHOLOGICAL SURVEY OF 17PATIENTS WITH LETHAL OSTEOCHONDRODYSPLASIAS

Seventeen patients thought to have lethal osteochondrodysplasias were evaluated. Diagnosis was established through clinical evaluation, radi ological studies and necropsy. Genetic counseling was provided to the affected patient's families. Specific diagnosis was confirmed in 16 ca ses. Nosologic diagnosis was done through clinical evaluation. However , the most efficient method for verifying the diagnosis was a skeletal radiological study. This fact corroborates the orientation of the Int ernational Classification of Osteochondrodysplasias (International Wor king Group on Constitutional Disease of Bone, 1992) in which a radiolo gical criterion was adopted as the most relevant for classification of osteochondrodysplasias. An anatomopathological study was also done to detect internal anomalies, and was effective in identifying abnormali ties in epiphyseal growth plate in a bone fragment study. This method had low specificity, but in two cases it was especially decisive for d iagnostic differentiation.