Distichiasis-lymphedema syndrome: Tetralogy of Fallot, chylothorax, and neonatal death
✍ Scribed by Chen, Emily; Larabell, Susan K.; Daniels, Jamilyn M.; Goldstein, Stanley
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 266 KB
- Volume
- 66
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
✦ Synopsis
W e describe a newborn female with a severe presentation of distichiasis-lymphedema syn- drome (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. @