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PubMed · 8403048

[Thanatophoric nanism and histopathologic bone changes].

V Bzdúch·E Véghová·S Galbavý·G Matejková·G Olejníková
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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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Bone and BonesFemaleHumansInfant, NewbornRadiographyThanatophoric DysplasiaCase ReportsJournal Article

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V Bzdúch, E Véghová, S Galbavý, G Matejková, G Olejníková. 1993. [Thanatophoric nanism and histopathologic bone changes].. https://pubmed.ncbi.nlm.nih.gov/8403048/

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