Distichiasis-lymphedema syndrome: tetralogy of Fallot, chylothorax, and neonatal death.
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.
Chen
E
E
Children's Hospital Oakland, CA 94609, USA.
Larabell
S K
SK
Daniels
J M
JM
Goldstein
S
S
D000015:Abnormalities, Multiple; D002916:Chylothorax; D005140:Eyelashes / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008209:Lymphedema; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D013771:Tetralogy of Fallot