Zlotogora J, Glick B
Department of Human Genetics, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.
Am J Med Genet. 1993 Aug 1;47(1):89-90. doi: 10.1002/ajmg.1320470118.
We report on a child with mental retardation, spasticity, and distal transverse defects of the limbs born to healthy parents related as first cousin. This is the third child reported to be affected with the syndrome described by Jancar. We confirm the existence of the syndrome as a separate entity and raise possibility that it may be inherited as an autosomal recessive trait.
我们报告了一名患有智力障碍、痉挛以及四肢远端横向缺陷的儿童，其父母健康且为近亲（表亲关系）。这是据报道受扬卡尔所描述综合征影响的第三个孩子。我们证实该综合征作为一个独立的病症存在，并提出其可能作为常染色体隐性性状遗传的可能性。
