Thanatophoric dysplasia: autopsy findings over a 25-year period

The aim of our study was to retrospectively assess morphological findings in thanatophoric dysplasia, particularly, in how many cases were cerebral manifestations with temporal lobe dysplasia identified. We also wanted to register and analyze the proportions between lung, brain, and body weight. Criteria for inclusion were an autopsy performed during the period ranging from 1985 to 2009 with a diagnosis of thanatophoric dysplasia. During a 25-year period 25 cases of thanatophoric dysplasia were registered. Temporal lobe dysplasia was recognized in 52% of the cases, and after 1998 temporal lobe dysplasia was described in all cases. In 19 cases the brain/body weight ratio was increased, and in all cases the lung/body weight ratio was below the corresponding ratio calculated according to standard measurements. In all but one case the ratio of brain to lung weight was increased. This study focuses on morphological findings, stressing the importance of temporal lobe dysplasia in confirming a diagnosis of thanatophoric dysplasia. Lung/body, brain/body, and brain/lung weight ratios confirm macrocephaly and lung hypoplasia, which are constant findings in cases involving thanatophoric dysplasia. Femur and brain morphology inclusive histology remains the ultimate tool for confirmation of this lethal condition, although it has to be seen in a context inclusive of radiological examination.