Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasias

Abstract

Seventeen patients thought to have lethal osteochondrodysplasias were evaluated. Diagnosis was established through clinical evaluation, radiological studies and necropsy. Genetic counseling was provided to the affected patient's families. Specific diagnosis was confirmed in 16 cases. 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 International Classification of Osteochondrodysplasias (International Working Group on Constitutional Disease of Bone, 1992) in which a radiological 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 abnormalities in epiphyseal growth plate in a bone fragment study. This method had low specificity, but in two cases it was especially decisive for diagnostic differentiation.<br>Foram avaliados 17 pacientes com suspeita diagnóstica de osteocondrodisplasias letais. O diagnóstico definitivo foi estabelecido através da avaliação clínica, estudo radiológico e pela necropsia. Foi também procedido o aconselhamento genético aos familiares dos afetados. Houve confirmação diagnóstica específica em 16 casos. Em todos, o diagnóstico nosológico foi clinicamente suspeitado. O método mais eficiente para a determinação diagnóstica foi, contudo, o estudo radiológico do esqueleto. Isto corrobora a orientação da Classificação Internacional das Osteocondrodisplasias (International Working Group on Constitutional Disease of Bone, 1992) ao adotar o critério radiológico como o mais relevante na classificação deste grupo sindrômico. O estudo anatomopatológico, além de detectar anomalias internas, foi eficiente, através do estudo do fragmento ósseo, identificando alterações na placa epifisária de crescimento, porém com baixa especificidade, na maioria das vezes. Este método, por outro lado, foi decisivo na diferenciação diagnóstica de dois casos

Evaluation of a Protocol for Postmortem Examination of Stillbirths and Neonatal Deaths with Congenital Anomalies

“…In three patients with hydrolethalus syndrome, the radiographic examination showed skeletal alterations not totally identified by dissection [35,36]. Other authors already commented on the importance of a postmortem radiographic study in patients with congenital anomalies [9,14,[37][38][39].…”