Larsen syndrome
Definition:
Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by the craniofacial abnormalities, multiple congenital dislocations of the large joints, and nontapering fingers. Recently, Larsen syndrome was shown to be caused by mutations in FLNB, encoding the cytoskeletal protein filamin B.
References:
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[1]. Louise S Bicknell, et al. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007 Feb;44(2):89-98. [Content Brief]
[2]. R Becker, et al. Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus. Clin Genet. 2000 Feb;57(2):148-50. [Content Brief]
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