Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation.

Abstract excerpt

We treated a patient with multiple congenital joint dislocations and facial dysmorphisms consistent with Larsen syndrome. Sequencing of the FLNB gene resulted in identification of a novel, de novo 508G>C point mutation resulting in substitution of proline for a highly conserved alanine (A170P). This mutation has not been described previously but is likely causative because this alanine is highly conserved and is...

Topics

• Abnormalities, Multiple
• Contractile Proteins
• Filamins
• Humans
• Infant
• Knee Dislocation
• Male
• Microfilament Proteins
• Musculoskeletal Abnormalities
• Mutation
• Syndrome