Bent bone dysplasia. A two year old boy with bent bone dysplasia syndrome, a non-inherited disorder of the skeleton, seen with his mother. The cause o

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Bent bone dysplasia. A two year old boy with bent bone dysplasia syndrome, a non-inherited disorder of the skeleton, seen with his mother. The cause of the syndrome is a mutation of the Fibroplast Growth Factor Receptor 2 (FGRF2) gene. The syndrome manifests with premature fusion of skull fissures (craniosynostosis), dysmorphic facial features and bent long bones due to poor mineralisation and changes to the chondrocytes that form cartillage. The condition is usually associated with extreme respiratory problems, an excessively large tongue and swallowing difficulty. This child has a tracheostomy to help him breathe. Bent bone displasia syndrome is extremely rare, with just a few cases known worldwide

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Keywords: 2, ailment, bent, bone, boy, child, condition, disease, dysplasia, factor, fgrf2, fibroplast, genetic, growth, illness, infant, inherited, male, malformation, malformed, mutation, paediatric, receptor, syndrome, years