Catalog

Bent bone dysplasias

LD24.C

Link to WHO Definition

Bent bone dysplasias – http://id.who.int/icd/entity/87260959

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.