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 findings at 30 weeks gestation included polyhydramnios, macrosomia, macroglossia, left-sided cleft lip and palate, nephromegaly, hepatosplenomegaly as well as an abnormal skull shape due to lamboid craniosynostosis. CONCLUSIONS: To our knowledge this is the first case report of increased nuchal translucency and craniosynostosis associated with SGB syndrome. A mutation in the glypican-3 gene was found in both the proband and the mother, who is a manifesting carrier.