Pelger-Huet anomaly in an infant with multiple congenital anomalies

Am J Hematol. 1991 Nov;38(3):240-2. doi: 10.1002/ajh.2830380318.

Abstract

We report a new case of Pelger-Huet anomaly (PHA) evident from the first day of life in an infant with multiple congenital anomalies suggestive of Fryn syndrome. The infant's parents are not affected by PHA, raising the possibility that the PHA resulted from a spontaneous mutation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Face / abnormalities
  • Hernia, Diaphragmatic / complications
  • Hernia, Diaphragmatic / surgery
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital
  • Male
  • Pelger-Huet Anomaly / complications*