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]

Détails

ID Serval
serval:BIB_EDB1DA447A71
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
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]
Périodique
Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
Auteur(s)
Adjahoto  E. O., De Grandi  P., Maillard-Brignon  C., Pescia  G.
ISSN
0368-2315 (Print)
Statut éditorial
Publié
Date de publication
1992
Volume
21
Numéro
8
Pages
928-33
Notes
Case Reports
English Abstract
Journal Article
Review
Résumé
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.
Mots-clé
Abnormalities, Multiple/genetics/pathology/*ultrasonography Adult Consanguinity Diagnosis, Computer-Assisted Encephalocele/genetics/pathology/*ultrasonography Female Foot Deformities, Congenital/genetics/pathology/*ultrasonography Humans Karyotyping Meningocele/genetics/pathology/*ultrasonography Pedigree Polycystic Kidney Diseases/genetics/pathology/*ultrasonography Pregnancy Software Syndrome Ultrasonography, Prenatal/methods
Pubmed
Création de la notice
25/01/2008 16:39
Dernière modification de la notice
03/03/2018 22:31
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