[Ultrasonic diagnosis of a hereditary multiple malformation syndrome: Meckel-Gruber syndrome or Carpenter-Hunter syndrome].
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.
Adjahoto
E O
EO
Centre Hospitalier Universitaire Vaudois, Département de Gynécologie-Obstétrique, Lausanne.
De Grandi
P
P
Maillard-Brignon
C
C
Pescia
G
G
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D000328:Adult; D003241:Consanguinity; D003936:Diagnosis, Computer-Assisted; D004677:Encephalocele / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D008588:Meningocele / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D011247:Pregnancy; D012984:Software; D013577:Syndrome; D016216:Ultrasonography, Prenatal / Q000379:methods
Diagnostic échographique d'un syndrome polymalformatif héréditaire: syndrome de Meckel-Grüber ou syndrome de Carpenter-Hunter.