title: [Thanatophoric nanism and histopathologic bone changes].
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.
authors.affiliation: I. detská klinika Detskej fakultnej nemocnice, Bratislava.
authors.forename: V
authors.initials: V
authors.lastname: Bzdúch
authors.forename: E
authors.initials: E
authors.lastname: Véghová
authors.forename: S
authors.initials: S
authors.lastname: Galbavý
authors.forename: G
authors.initials: G
authors.lastname: Matejková
authors.forename: G
authors.initials: G
authors.lastname: Olejníková
mesh_terms: D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011859:Radiography; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging / Q000473:pathology