[Thanatophoric nanism and histopathologic bone changes]
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Abstract:
The authors describe in a neonate with thanatophoric nanism histopathological changes of the bones. According to X-ray findings type I was involved, the histopathological changes corresponded to type II according to Langer's classification. The consanguinity of the parents suggested the autosomal recessive type of heredity and the presence of pseudo-diastrophic dysplasia in two grade 1 cousins is considered by the authors as an incidental coincidence. The described case confirms the assumed clinical and genetic heterogeneity of thanatophoric nanism.
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