Femur fibula ulna (FFU) syndrome is a rare congenital non-lethal anomaly which is classically characterized by unilateral limb defects of the femur and fibula of one limb followed by a contralateral defect in the ulna 2. There have however been several variations described including bilateral involvement 4.
It is sometimes considered to overlap with that of proximal focal femoral deficiency (PFFD). At the time of writing it has been subclassified as up to four subgroups. Overall, there may be greater involvement of the upper limbs 6.
The exact etiology is unknown and the occurrence is thought to be sporadic 2. There is not thought to be any relationship with increasing maternal age 2.
- 1. Castriota-Scanderbeg A, Dallapiccola B. Abnormal skeletal phenotypes, from simple signs to complex diagnoses. Springer Verlag. (2006) ISBN:3540679979. Read it at Google Books - Find it at Amazon
- 2. Guschmann M, Becker R, Urban M et-al. [Femur-fibula-ulna (FFU) complex in the 33rd week of gestation: ultrasonography, radiology, pathology and differential diagnosis. Case report]. Klin Padiatr. 213 (5): 301-5. doi:10.1055/s-2001-17225 - Pubmed citation
- 3. Capece G, Fasolino A, Della monica M et-al. Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation. Prenat. Diagn. 1994;14 (6): 502-5. - Pubmed citation
- 4. Geipel A, Berg C, Germer U et-al. Prenatal diagnosis of femur-fibula-ulna complex by ultrasound examination at 20 weeks of gestation. Ultrasound Obstet Gynecol. 2003;22 (1): 79-81. doi:10.1002/uog.153 - Pubmed citation
- 5. Florio I, Wisser J, Huch R et-al. Prenatal ultrasound diagnosis of a femur-fibula-ulna complex during the first half of pregnancy. Fetal. Diagn. Ther. 14 (5): 310-2. Fetal. Diagn. Ther. (link) - Pubmed citation
- 6. Lenz W, Zygulska M, Horst J. FFU complex: an analysis of 491 cases. Hum. Genet. 1993;91 (4): 347-56. - Pubmed citation
- 7. Zlotogora J, Rosenmann E, Menashe M et-al. The femur, fibula, ulna (FFU) complex in siblings. Clin. Genet. 1983;24 (6): 449-52. - Pubmed citation