A case of femur-fibular-ulna complex with peculiar metaphyseal changes.
Femur-fibular-ulna (FFU) complex is an unusual, sporadically occurring limb malformation disorder, characterized by a highly variable combination of congenital defects of the femur, the fibula and/or the ulna, which tend to be associated. We report the case of a fetus with FFU complex and additional striking metaphyseal anomalies of the lower limbs and an abnormal chondrocyte organization pattern. To our knowledge this is the first reported case of histologic metaphyseal alterations in association with the FFU complex.
Ludwig
Kathrin
K
Clinical Genetics, Department of Pediatrics, University of Padua, Via Giustiniani 3, Padua, Italy. nostradame@gmx.de
Tenconi
Romano
R
Salmaso
Roberto
R
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000025:Abortion, Eugenic; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D019902:Chondrocytes / Q000473:pathology; D002871:Chromosome Banding; D005260:Female; D005269:Femur / Q000002:abnormalities*; D005315:Fetal Diseases / Q000235:genetics / Q000473:pathology*; D005360:Fibula / Q000002:abnormalities*; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D014457:Ulna / Q000002:abnormalities*