Elliott A M, Chen M F, Azouz E M, Teebi A S
Division of Medical Genetics, McGill University, Montreal, Quebec, Canada.
Am J Med Genet. 1995 Jan 16;55(2):240-3. doi: 10.1002/ajmg.1320550218.
We describe a 21-week-old fetus with a pattern of multiple congenital anomalies suggestive of the human homologue of the mouse mutant disorganization (Ds). Manifestations included facial asymmetry, thick eye brows, micrognathia, apparently lowset ears, an enormous abdominal wall defect, severe kyphoscoliosis, camptodactyly of the fingers, complete absence of the left lower limb, and absence of the lower part of the sacrum and coccyx, as well as left side of the pelvis. There was a disorganized appearance of the right foot with supernumerary digits and appendages and talipes equinovarus. No obvious amniotic bands or oligohydramnios were noted. Similar cases in the literature are reviewed and the clinical significance to genetic counselling is emphasized.
我们描述了一名21周大的胎儿，其具有多种先天性异常模式，提示为小鼠突变体无序化（Ds）的人类同源物。表现包括面部不对称、浓眉、小颌、明显低位耳、巨大腹壁缺损、严重脊柱侧凸、手指屈曲挛缩、左下肢完全缺失、骶骨和尾骨下部以及骨盆左侧缺失。右脚外观紊乱，有多余的脚趾和附属物以及马蹄内翻足。未发现明显的羊膜带或羊水过少。对文献中的类似病例进行了综述，并强调了其对遗传咨询的临床意义。
