Zusammenfassung
Missbildungen mit Defekten an den unteren Extremitäten sind selten. Sie entstehen in der Regel als toxische Schädigung während der Schwangerschaft zwischen der 4. und der 12. Woche. Es gibt auch solche mit hereditären Ursachen. Insgesamt beträgt die Inzidenz der Defektmissbildungen an den Beinen ca. 18 auf 100.000 Neugeborene. Am häufigsten sind fibuläre Längsdefekte, gefolgt vom kongenitalen Femurdefekt und dem tibialen Längsdefekt. Längsdefekte sind meist mit Strahldefekten an den Füßen assoziiert. Seltener ist die kongenitale Tibiapseudarthrose, wobei diese Diagnose in epidemiologischen Studien an Neugeborenen unterschätzt wird, da sich die Fraktur meist erst nach Gehbeginn ereignet. Andere Defektmissbildungen wie die Blasenexstrophie, der Spaltfuß sowie Defekte im Rahmen von Syndromen (Apert-Syndrom, Schnürringkomplex) sind extrem selten. Für die Behandlung steht ein breites Spektrum an Möglichkeiten zur Verfügung. Dieses reicht von Schuherhöhung, orthetischer oder prothetischer Versorgung über Umstellungsosteotomien, Arthrodesen, Umkehrplastiken, Amputationen bis zur operativen Beinverlängerung. Die Therapie der komplexen Deformitäten sollte stets in einem Team von Spezialisten mit Orthopäden, Orthopädietechnikern, Physiotherapeuten, Psychologen, evtl. auch anderen spezialisierten Chirurgen erfolgen.
Abstract
Malformations with deficiencies of the lower extremities are rare. They are usually caused by toxic influences during pregnancy between the 4th and the 12th week of gestation. Some malformations have a genetic origin. The total incidence of congenital deficiencies of the lower extremities is approximately 18 in 100,000 newborns. The most common deficiencies are fibular hemimelias, followed by congenital femoral deficiencies and tibial hemimelias. Hemimelias are often associated with deficient toes or ray defects. Congenital pseudarthrosis of the tibia is less common, but this diagnosis is underestimated in epidemiological studies in neonates, because the fracture usually only occurs at walking age. Other deficiencies such as bladder exstrophy with pelvic defects, split feet and defects in association with hereditary skeletal dysplasias (Apert syndrome, constriction band syndrome) are extremely rare. Various treatment options are available, including shoe elevation, orthotic or prosthetic devices, realignment osteotomy, arthrodesis, rotationplasty, amputation and surgical leg lengthening. Complex deformities should be treated by a team of specialists such as orthopedic surgeons, orthotists, physiotherapists, psychologists and possibly other surgeons too.
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Hefti, F. Defektmissbildungen an den unteren Extremitäten. Orthopäde 37, 381–402 (2008). https://doi.org/10.1007/s00132-008-1250-4
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DOI: https://doi.org/10.1007/s00132-008-1250-4