We report a fetus with spinal muscular atrophy type I, who presented with a
n increased nuchal translucency at 13 weeks' gestation. A review of the lit
erature reveals additional cases of spinal muscular atrophy type I associat
ed with increased nuchal translucency and suggests increased nuchal translu
cency may be an early finding in this disorder. Copyright (C) 1999 John Wil
ey & Sons, Ltd.