Macrosomia With Microphthalmia, Lethal

Teebi et al. (1989) observed an inbred family in Kuwait in which 3 females and 2 males from a sibship of 10 had macrosomia, severe microphthalmia, and early infant death. Three of the affected infants had median cleft palate. All 5 affected sibs showed respiratory infections in early life and died either unexpectedly or because of a documented overwhelming infection.