Ibba R M, Corda A, Zoppi M A, Floris M, Todde P, Monni G
Department of Obstetrics and Gynecology, Ospedale Regionale per le Microcitemie, Cagliari, Sardinia, Italy.
Ultrasound Obstet Gynecol. 1997 Aug;10(2):142-4. doi: 10.1046/j.1469-0705.1997.10020142.x.
In this case report the sonographic appearance of cerebro-costo-mandibular syndrome is described. Increased fetal nuchal translucency (at 11 weeks), micrognathia (at 12 weeks) and failure to ultrasound to identify the ribs (at 18 weeks) were revealed with serial scanning. These cardinal findings allowed the prenatal diagnosis of cerebro-costo-mandibular syndrome to be made at 18 weeks' gestation.