Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report

• Main Authors: N. Riise (Author), B. R. Lindberg (Author), M. A. Kulseth (Author), S. O. Fredwall (Author), R. Lundby (Author), M.-E. Estensen (Author), L. Drolsum (Author), E. Merckoll (Author), K. Krohg-Sørensen (Author), B. Paus (Author)
• Format: Book
• Published: BMC, 2018-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Larsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities. The autosomal dominant type is caused by mutations in the gene that encodes the connective tissue protein, filamin B (FLNB). Loeys...