Abstract
A study of 491 patients with femur-fibula-ulna (FFU) complex is presented. The term FFU complex has been proposed for cases in which the femur, fibula and/or ulna show defects, which tend to be associated. These cases are usually sporadic. Some rare anomalies of the arms which are present are particularly frequent in FFU complex. These are amelia, peromelia of humerus, humeroradial synostosis and defect of ulna. In our study, 491 patients were investigated for involvement of limb malformations. Our results, showing nearly equal proportions of the most common malformations in four analysed groups (with one, two, three and four limbs affected) supports the hypothesis that even if one arm or one leg only is affected, the cases may still be classifiable as FFU complex. There is a striking asymmetry in presence and in degree. All malformations are more often unilateral than bilateral. Upper limbs are affected more often than lower limbs. The right side and the male sex are preferentially affected. The limb malformations present in the FFU complex are different from those seen in most other types of limb defects, so there is virtually no overlap between FFU and other limb malformations. Some arguments in favour of early somatic mutation as a cause are discussed.
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References
Al-Awadi A, Teebi AS, Farag TJ, Naguib KM, El-Khalifa MY (1985) Profound limb deficiency, thoracic dystrophy, unusual faces, and normal intelligence: a new syndrome. J Med Genet 22:36–38
Eiken M, Prag J, Petersen KE, Kaufmann HJ (1984) A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bone especially of the ephiphysis the hands, and feet. Eur J Pediatr 141:231–235
Johnson JP, Carey JC, Gooch III WM, Petersen J, Beattie JF (1983) Femoral hypoplasia — unusual faces syndrome in infants of diabetic mothers. J Pediatr 102:865–872
Kühne D, Lenz W, Petersen D, Schönenberg M (1967) Defekt von Femur and Fibula mit Amelie, Peromelie oder ulnaren Strahl-de-fekten der Arme. Humangenetik 3:244–263
Lehmann W (1953) Über eine Familie mit multiplen Mißbildungen an Händen und Füßen. Hochgradige Syndaktylie, Fehlen eines Binnenstrahles, Verdopplungstendenz und Bradydaktylie. Acta Genet Med 2:87–102
Lenz W, Feldmann U (1977) Unilateral and asymmetric limb defects in man. Delineation of the femur fibula ulna complex. Birth Defects 13:269–285
Lipson AH, Kozlowski K, Barylak A, Marsden W (1991) Am J Med Genet 41:176–179
Lowry RB (1972) Congenital absence of the fibula and craniosynostosis in sibs. J Med Genet 9:227–229
Ohdo SH, Madokoro H, Sonoda T, Takei M, Yasuda H, Mori N (1987) Association of tetraamelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation. Med Genet 24:609–612
Reynolds JF, Wyandt ME, Kelly TE (1985) De novo 21q interstitial deletion in a retarded boy with ulna-fibular dysostosis. Am J Med Genet 20:173–180
Saito N, Kuba A, Tsuruta T (1989) Lethal form of fibuloulnar A/ hypoplasia with renal abnormalities. Am J Med Genet 32:452–456
Schrander-Stumpel C, Die-Smulders C de, Fryns JP, Costa J da, Bouckaert P (1990) Limb reduction defects and renal dysplasia: onfirmation of a new, apparently lethal, autosomal recessive MCA syndrome. Am J Med Genet 37: 133–135
Zimmer EZ, Taub E, Sova Y, Divon MY, Pery M, Peretz BA (1985) Tetra-amelia with multiple malformations in six male fetuses of one kindred. Eur J Pediatr 14:412
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Lenz, W., Zygulska, M. & Horst, J. FFU complex: an analysis of 491 cases. Hum Genet 91, 347–356 (1993). https://doi.org/10.1007/BF00217355
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DOI: https://doi.org/10.1007/BF00217355