Document Detail


Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases.
MedLine Citation:
PMID:  23345196     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: Noonan syndrome is a frequent genetic disorder with autosomal dominant transmission. Classically, it combines postnatal growth restriction with dysmorphic and malformation syndromes that vary widely in expressivity. Lymphatic dysplasia induced during the embryonic stage might interfere with tissue migration. Our hypothesis is that the earlier the edema, the more severe postnatal phenotype.
METHOD: This retrospective study analyzed data from all 32 cases of Noonan syndrome diagnosed in the Medical Genetics Department of Hautepierre Hospital in Strasbourg, France, between 1995 and 2011. The postnatal evolution of Noonan syndrome was compared according to the presence of at least one prenatal ultrasound feature of lymphatic dysplasia.
RESULTS: The most frequent prenatal ultrasound features found were increased nuchal translucency, cystic hygroma and polyhydramnios; their global prevalence was 46.4%. The presence of these features was not significantly associated with the postnatal phenotype of Noonan syndrome.
CONCLUSION: The results of our study indicate that prenatal ultrasound features of lymphatic dysplasia do not predict an unfavorable postnatal prognosis for Noonan syndrome.
Authors:
A Gaudineau; B Doray; E Schaefer; N Sananès; G Fritz; M Kohler; Y Alembik; B Viville; R Favre; B Langer
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Publication Detail:
Type:  Journal Article     Date:  2013-01-24
Journal Detail:
Title:  Prenatal diagnosis     Volume:  33     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-03-04     Completed Date:  2013-08-19     Revised Date:  2014-01-27    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  238-41     Citation Subset:  IM    
Copyright Information:
© 2013 John Wiley & Sons, Ltd.
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MeSH Terms
Descriptor/Qualifier:
Child
Child, Preschool
Cohort Studies
Female
Humans
Hydrops Fetalis / ultrasonography
Infant
Lymphangioma, Cystic / ultrasonography
Male
Noonan Syndrome / ultrasonography*
Nuchal Translucency Measurement
Phenotype
Polyhydramnios / ultrasonography
Pregnancy
Prognosis
Retrospective Studies
Severity of Illness Index
Ultrasonography, Prenatal
Comments/Corrections
Comment In:
Prenat Diagn. 2013 Dec;33(13):1318-20   [PMID:  24327430 ]

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