[Femur-fibula-ulna (FFU) complex in the 33rd week of gestation: ultrasonography, radiology, pathology and differential diagnosis. Case report].
We present a case of a 27 year old I. gravida, I. para. Despite of regular ultrasonographic examination the diagnosis of skeletal malformation at the fetus was not before 33. weeks of gestation. It was the rare type of a bothside femur-fibula-ulna (FFU) complex. The FFU-complex is a no lethal malformation with typical unilateral combination from defects of femur and fibula, with contralateral defect of ulna. Dependent to involvement of malformated limbs the FFU-complex is classifiable in four groups. Only in 10 % all limbs are affected. Our case (type IV) showed a peromelia of both upper limbs with stumps of humeri, bothside aplasia of fibula and missing from 4. and 5. toes. There fetus were without nonlimb congenital abnormalities. The etiology of FFU-complex is unknown, the occurrence sporadic. There are never found genetic abnormalities. Familial recurrence is not described. There is no maternal or paternal age effect on FFU-complex. The differential diagnosis must include malformations with reduction anomalies of extremities, like thalidomide syndrome, splenogonadal fusion with limb malformations, Roberts syndrome, oroacral complex or acheiropodia. Mark off are amniotic band too.
Guschmann
M
M
Abteilung für Paidopathologie und Plazentologie, Universitätsklinikum Charité, Virchow-Klinikum, Medizinische Fakultät der Humboldt-Universität zu Berlin, Germany. Michael.Guschmann@charite.de
Becker
R
R
Urban
M
M
Entezami
M
M
Hese
S
S
Vogel
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D000028:Abortion, Induced; D001344:Autopsy; D003937:Diagnosis, Differential; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D005333:Fetus / Q000473:pathology; D005360:Fibula / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D008297:Male; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D011296:Prenatal Diagnosis; D011859:Radiography; D014457:Ulna / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D016216:Ultrasonography, Prenatal