Raas-Rothschild A, Nir A, Ergaz Z, Bar Ziv J, Rein A J
The Roza and David Orzen Human Genetics Clinic, Department of Human Genetics, Jerusalem, Israel.
Am J Med Genet. 1999 Jun 4;84(4):361-4.
We report on a child with bifid femur, absent tibiae, hypoplastic hallux, bilateral club feet, congenital heart defects, and segmentation anomalies of the spine and ribs. Parents are consanguineous, from a region where other consanguineous families with similarly affected individuals have been reported. Clinical and genetic controversies of the tibial aplasia-ectrodactyly syndrome/Gollop-Wolfgang complex are discussed.
我们报告了一名患有双叉股骨、胫骨缺如、拇趾发育不全、双侧马蹄内翻足、先天性心脏缺陷以及脊柱和肋骨节段异常的儿童。患儿父母为近亲结婚，来自一个曾报道过其他有类似患病个体的近亲家庭的地区。本文讨论了胫骨发育不全-缺指（趾）综合征/戈洛普-沃尔夫冈综合征的临床和遗传学争议。
