van de Kamp J M, van der Smagt J J, Bos C F A, van Haeringen A, Hogendoorn P C W, Breuning M H
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Am J Med Genet A. 2005 Sep 15;138(1):45-50. doi: 10.1002/ajmg.a.30918.
Bifurcation of the femur and tibial agenesis are rare anomalies and have been described in both the Gollop-Wolfgang Complex and the tibial agenesis-ectrodactyly syndrome. We report on two patients with bifurcation of the femur and tibial agenesis. Hand ectrodactyly was seen in one of these patients. Both patients had unusual additional anomalies. The first patient had in addition proximal focal femoral deficiency, the other patient had a tracheo-esophageal fistula and pyloric stenosis. Clinical and genetic aspects are discussed.
股骨分叉和胫骨发育不全是罕见的异常情况，在戈洛普 - 沃尔夫冈综合征和胫骨发育不全 - 缺指（趾）畸形综合征中均有描述。我们报告了两例股骨分叉和胫骨发育不全的患者。其中一名患者出现手部缺指（趾）畸形。两名患者均有其他不寻常的异常情况。第一名患者还伴有近端局灶性股骨缺损，另一名患者患有气管食管瘘和幽门狭窄。本文讨论了其临床和遗传学方面的情况。
