Turner's Infantile Phenotype

Abstract

Turner's infantile phenotype is a term used to describe infants with stigmata suggestive of Turner's syndrome. These include brawny oedema of the feet, loose neck folds, and a characteristic facies. Ten cases are described in this report. Four of these had a similar facial appearance and three had serous effusions. Two of the latter died and at necropsy no cardiac, vascular, or renal cause for the effusions was found, but the gonads in each were macroscopically reduced in size and microscopically were grossly abnormal.