Chen E, Larabell S K, Daniels J M, Goldstein S
Children's Hospital Oakland, CA 94609, USA.
Am J Med Genet. 1996 Dec 18;66(3):273-5. doi: 10.1002/(SICI)1096-8628(19961218)66:3<273::AID-AJMG7>3.0.CO;2-Q.
We describe a newborn female with a severe presentation of distichiasis-lymphedema syndrome (McKusick 15340). She was initially evaluated because of a phenotype suggestive of Ullrich-Turner or Noonan syndrome (low posterior hairline, cupped ears, severe pterygium colli, heart murmur, and pectus excavatum). Distichiasis was noted at age 6 weeks. Subsequent to surgery for tetralogy of Fallot, patent ductus arteriosus, and branch pulmonic stenosis, she developed persistent chylothorax and sepsis. She died at 3 months. Family history indicated segregation of distichiasis-lymphedema syndrome. She was the sixth member in her family to have this disorder and was the most severely affected.
我们描述了一名患有双行睫-淋巴水肿综合征（麦库西克15340）严重表现的新生女婴。她最初因提示乌尔里希-特纳综合征或努南综合征的表型（后发际线低、杯状耳、严重的颈蹼、心脏杂音和漏斗胸）而接受评估。6周龄时发现双行睫。在接受法洛四联症、动脉导管未闭和分支肺动脉狭窄手术后，她出现了持续性乳糜胸和败血症。她于3个月时死亡。家族史表明双行睫-淋巴水肿综合征呈分离状态。她是家族中第六个患有这种疾病的成员，也是受影响最严重的。
