LD24.C
Bent bone dysplasias
Displasias de ossos encurvados
CategoryDefinition
Any syndromes are characterised by poor mineralization of the skull, craniosynostosis, hypoplastic pubis and clavicles, osteopenia, bent long bones, low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia. These syndromes may be associated with mutation of the FGFR2 gene.
Index Terms
Bent bone dysplasiasStüve-Wiedemann syndromeKyphomelic dysplasiaCampomelia, Cumming typeWeismann-Netter syndrome