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.

• MeSH
• kosti a kostní tkáň diagnostické zobrazování   patologie   MeSH
• lidé MeSH
• novorozenec MeSH
• radiografie MeSH
• thanatoforní dysplazie * diagnostické zobrazování   patologie   MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH