Diagnostic echographique d'un syndrome polymalformatif hereditaire: syndrome de Meckel-Gruber ou syndrome de Carpenter-Hunter. [Ultrasonic diagnosis of a hereditary multiple malformation syndrome: Meckel-Gruber syndrome or Carpenter-Hunter syndrome]

Abstract

Concerned by 2 cases of a recurring multiple fetal malformation syndrome in a consanguineous couple, the authors present the ultrasonic, clinical and paraclinical data that, when introduced into a computerised prenatal diagnostic programme, suggest a Meckel-Gruber or Carpenter-Hunter syndrome. The discovery of single or multiple fetal malformations requires not only complete echographic assessment, but also detailed post-abortum examination to allow optimal use of diagnostic aid programmes