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]
Details
Serval ID
serval:BIB_EDB1DA447A71
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
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]
Journal
Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
ISSN
0368-2315 (Print)
Publication state
Published
Issued date
1992
Volume
21
Number
8
Pages
928-33
Notes
Case Reports
English Abstract
Journal Article
Review
English Abstract
Journal Article
Review
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.
Keywords
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
Create date
25/01/2008 16:39
Last modification date
20/08/2019 17:15