Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome

J Pediatr. 2017 Jun:185:248-248.e1. doi: 10.1016/j.jpeds.2017.02.042. Epub 2017 Mar 28.
No abstract available

Keywords: RAS/MAPK; RASopathy; facial dysmorphism; lymphatic malformation; pleural effusion; protein-tyrosine phosphatase, nonreceptor-type, 1; vertebral anomalies, 1.

Publication types

  • Case Reports

MeSH terms

  • Chylothorax / congenital*
  • Chylothorax / etiology
  • Genetic Markers
  • Humans
  • Infant
  • Male
  • Mutation
  • Noonan Syndrome / complications
  • Noonan Syndrome / diagnosis*
  • Noonan Syndrome / genetics
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics

Substances

  • Genetic Markers
  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11

Supplementary concepts

  • Chylothorax, congenital