Document Detail


Prenatal diagnosis of a 'minor' form of Brachmann-de Lange syndrome by three-dimensional sonography and three-dimensional computed tomography.
MedLine Citation:
PMID:  14764961     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Brachmann-de Lange syndrome is a congenital disease characterized by severe mental retardation, pre- and postnatal symmetric growth delay, limb defects, visceral anomalies, hirsutism, and a typical face. The authors describe the prenatal sonographic pattern of Brachmann-de Lange syndrome suspected at 20 weeks of gestation, with severe intrauterine growth retardation, facial dysmorphism, cardiac abnormality, and micromelia without the typical defects of the upper limbs. Fetal karyotyping was normal. The diagnosis of a 'minor' form of Brachmann-de Lange syndrome was confirmed at 28 weeks of gestation by using three-dimensional sonography in order to assess precisely the facial dysmorphism and by performing a three-dimensional computed tomography of the upper limbs in order to identify the subtle abnormalities of the radial head and of the first metacarpal bone.
Authors:
Claudine Le Vaillant; Marie-Pierre Quere; Albert David; Marc Berlivet; Georges Boog
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Fetal diagnosis and therapy     Volume:  19     ISSN:  1015-3837     ISO Abbreviation:  Fetal. Diagn. Ther.     Publication Date:    2004 Mar-Apr
Date Detail:
Created Date:  2004-02-06     Completed Date:  2004-09-28     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  9107463     Medline TA:  Fetal Diagn Ther     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  155-9     Citation Subset:  IM    
Copyright Information:
Copyright 2004 S. Karger AG, Basel
Affiliation:
Department of Obstetrics and Fetal Medicine, University Hospital Mère et Enfant, Nantes, France.
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MeSH Terms
Descriptor/Qualifier:
Adult
De Lange Syndrome / radiography*,  ultrasonography*
Female
Fetal Diseases / radiography*,  ultrasonography*
Humans
Imaging, Three-Dimensional / methods*
Infant
Male
Pregnancy
Prenatal Diagnosis / methods*
Tomography, X-Ray Computed / methods

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