Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988-2006)

ALANAY Y., Krakow D., Rimoin D. L., Lachman R. S.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.11, pp.1159-1168, 2007 (SCI-Expanded) identifier identifier identifier


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. To determine the extent and heterogeneity of disorders associated with angulated or bent femurs, we analyzed cases in the radiographic database (1998-2006) of the International Skeletal Dysplasia Registry (ISDR) and determined which established skeletal dysplasias and genetic syndromes are associated with this finding. The results show that more than 40 distinct disorders with varying frequency (very rare to more commonly occuring 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%). With specific emphasis on these, this cross-sectional cohort provides discussion of data on other rare disorders associated with angulated femurs and the importance of the finding relative to its occurrence within a diagnostic group. This study aims to provide differential diagnosis of entities to be considered when a fetus or newborn is found to have congenital bowing/angulation of the femur. (C) 2007 Wiley-Liss, Inc.