Monday 23 January 2006
Angulated or bent femur (isolated or associated with other long bone bowing) in the fetus or newborn is relatively common when evaluating patients with skeletal dysplasias.
More than 40 distinct disorders with varying frequency (very rare to more commonly occurring disorders) can be associated with bowed/bent/angulated femurs. Sixty-six percent of the cases with angulated femurs belonged to three well described groups of disorders; campomelic disorders (24.4%), thanatophoric dysplasia (23.9%) and osteogenesis imperfecta (OI) (18.1%).
campomelic dysplasia (24.4%)
thanatophoric dysplasia (23.9%)
osteogenesis imperfecta (OI) (18.1%).
otopalatodigital syndrome type 2 (OPD2)
Alanay Y, Krakow D, Rimoin DL, Lachman RS. Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006). Am J Med Genet A. 2007 Jun 1;143(11):1159-68. PMID: #17486589#