| Brachmann-de Lange syndrome: definition of prenatal sonographic features to facilitate definitive prenatal diagnosis. | |
| | |
MedLine Citation:
|
PMID: 20665529 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
OBJECTIVE: The objective was to improve the prenatal diagnosis of Brachmann-de Lange syndrome (BDLS) by defining the sonographic criteria. METHODS: Retrospective review of Fetal Medicine Unit (FMU) notes from 1998 to 2009 to identify all cases seen with a final diagnosis of BDLS. Literature review undertaken to ascertain all cases where sonographic features of BDLS had been described. Information was pooled to define the most common features. RESULTS: Seven cases were identified from review of FMU records. The diagnosis was suspected prenatally in four of the seven. All had asymmetrical forearm defects with oligodactyly/polydactyly, five had intrauterine growth restriction (IUGR) and five had abnormal facial features including micrognathia and/or a long overhanging philtrum. A further 28 cases were identified in the literature, but the diagnosis was only suspected prenatally in nine. Overall the most common feature was IUGR (80%); upper limb anomalies were detected in nearly half of cases. Other common features included facial anomalies (40%), diaphragmatic hernia (34%), increased nuchal translucency/fold (37%) and cardiac anomalies (14%). CONCLUSIONS: Identification of asymmetrical oligodactyly with or without forearm anomalies associated with microcephaly and/or IUGR or diaphragmatic hernia are findings that should arouse suspicion of BDLS, although definitive diagnosis at present would have to await delivery in the majority of cases. |
| | |
Authors:
|
E Pajkrt; D R Griffin; L S Chitty |
Related Documents
:
|
9178319 - Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisom... 7271999 - Cyclopia with trisomy 13 under special consideration of dermatoglyphics and flexion cre... 12731749 - Severe hypoplasia of the right femur, ipsilateral agenesia of the fibula and twisted ri... 565559 - Studies on a sheep freemartin. 3524839 - Prognostic signs in fetal hydrocephalus. 7090749 - An ominous undulating fetal heart rate pattern. 528899 - Studies of the cognitive representation of spatial relations: i. overview. 6311889 - Nitrous oxide-induced myeloneuropathy. 19460649 - Camelid cardiology. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Prenatal diagnosis Volume: 30 ISSN: 1097-0223 ISO Abbreviation: Prenat. Diagn. Publication Date: 2010 Sep |
Date Detail:
|
Created Date: 2010-09-02 Completed Date: 2010-12-15 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: England |
Other Details:
|
Languages: eng Pagination: 865-72 Citation Subset: IM |
Copyright Information:
|
(c) 2010 John Wiley & Sons, Ltd. |
Affiliation:
|
Academic Medical Centre, Amsterdam, The Netherlands. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
De Lange Syndrome
/
ultrasonography* Female Fetal Growth Retardation / ultrasonography* Forearm / abnormalities, ultrasonography Hernia, Diaphragmatic / ultrasonography Humans Limb Deformities, Congenital / ultrasonography Microcephaly / ultrasonography Pregnancy Retrospective Studies Ultrasonography, Prenatal* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Simultaneous determination of aripiprazole and its active metabolite, dehydroaripiprazole, in plasma...
Next Document: Effects of titanocene dichloride derivatives on prostate cancer cells, specifically DNA damage-induc...