Increased Nuchal Translucency and Other Ultrasound Findings in a Case of Simpson-Golabi-Behmel Syndrome

OBJECTIVES: Fetal imaging, in particular nuchal translucency, is playing an increasingly important role in diagnosing genetic syndromes. We report imaging findings of a male fetus with Simpson-Golabi-Behmel (SGB) syndrome. METHODS AND RESULTS: The SGB case was noted to have increased nuchal translucency on integrated prenatal screening, in conjunction with elevated maternal serum alpha fetal protein and body wall edema. Subsequent ultrasound …