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  • Title: [Ultrasonic diagnosis of a hereditary multiple malformation syndrome: Meckel-Gruber syndrome or Carpenter-Hunter syndrome].
    Author: Adjahoto EO, De Grandi P, Maillard-Brignon C, Pescia G.
    Journal: J Gynecol Obstet Biol Reprod (Paris); 1992; 21(8):928-33. PubMed ID: 1491139.
    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.
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