Lethal epiphyseal stippling in the foetus and neonate; pathological implications

Autopsy reports accumulated since 1991 contained 30 cases in which routine radiological investigation had demonstrated radio-dense stippling of the epiphyses. The case histories, pregnancy progress, clinical manifestations, cytogenetic investigations, and autopsy findings have been tabulated and analysed for the purpose of diagnostic discrimination. Firm diagnoses were obtained in eight instances: warfarin embryopathy—three, trisomy 18—three, lethal multiple pterygium syndrome—one. Other possible but unconfirmed diagnoses were chromosomal aneuploidy—three, sonic hedgehog phenotype—one, CHARGE association—one, intrauterine infection—one. The value of autopsy in foetuses and neonates with lethal epiphyseal stippling syndromes is exemplified by the detection of multiple visceral abnormalities in ten instances.