Document Detail


Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
MedLine Citation:
PMID:  19382114     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: Delineate prenatal features of Costello syndrome (caused by HRAS mutations), which consists of mental retardation, facial, cardiovascular, skin, and musculoskeletal anomalies, and tumor predisposition. METHODS: Literature and new cases classified as Group I (pre-HRAS), Group II (HRAS confirmed), and Group III (HRAS confirmed in natural history study, plus three contributed cases). RESULTS: Polyhydramnios occurred in most (mean 79%) pregnancies of cases in Groups I (98), II (107), and III (17); advanced paternal age and prematurity were noted in approximately half. Less frequent were nuchal thickening, ascites, shortened long bones, abnormal hand posture, ventriculomegaly, macrosomia, and macrocephaly. Fetal arrhythmia occurred in nine cases (six supraventricular or unspecified tachycardia, one unspecified arrhythmia, and two premature atrial contractions, PACs); excluding three new cases and two with PACs, the estimated prenatal frequency is 4/222 (2%). CONCLUSION: Costello syndrome can be suspected prenatally when polyhydramnios is accompanied by nuchal thickening, hydrops, shortened long bones, abnormal hand posture, ventriculomegaly, large size, and macrocephaly, and especially fetal atrial tachycardia. Consideration should be given for timely prenatal diagnostic studies for confirmative HRAS gene mutations and for maternal treatment of serious fetal arrhythmia.
Authors:
Angela E Lin; Barbara O'Brien; Laurie A Demmer; Kristina K Almeda; Cynthia L Blanco; Patrick F Glasow; Charles I Berul; Robert Hamilton; A Micheil Innes; Julie L Lauzon; Katia Sol-Church; Karen W Gripp
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  29     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2009 Jul 
Date Detail:
Created Date:  2009-07-06     Completed Date:  2009-10-02     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  682-90     Citation Subset:  IM    
Affiliation:
Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, 185 Cambridge Street, Simches 2222, Boston, MA, USA. lin.angela@mgh.harvard.edu
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / ultrasonography*
Adult
Female
Fetal Diseases / ultrasonography
Humans
Infant, Newborn
Male
Polyhydramnios / ultrasonography
Pregnancy
Syndrome
Tachycardia, Ectopic Atrial / congenital,  ultrasonography*
Ultrasonography, Prenatal*
Grant Support
ID/Acronym/Agency:
P20-RR020173/RR/NCRR NIH HHS

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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