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Distichiasis-lymphedema syndrome: tetralogy of Fallot, chylothorax, and neonatal death.

Authors
  • Chen, E
  • Larabell, S K
  • Daniels, J M
  • Goldstein, S
Type
Published Article
Journal
American journal of medical genetics
Publication Date
Dec 18, 1996
Volume
66
Issue
3
Pages
273–275
Identifiers
PMID: 8985486
Source
Medline
License
Unknown

Abstract

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.

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