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limb bowing

Long bone bowing Femoral bowing in osteogenesis imperfecta (21 weeks) with normal (...) Femoral bowing in osteogenesis imperfecta (21 weeks) with normal (...)

Localization

- femoral bowing
- tibial bowing

Etiology

- campomelic dysplasia (SOX9 mutations)
- Cumming syndrome (cervical lymphocele with bowed long bones)

References

- Cormier-Daire V, Genevieve D, Munnich A, Le Merrer M. New insights in congenital bowing of the femora. Clin Genet. 2004 Sep;66(3):169-76. PMID: 15324311

Keywords