Literature DB >> 10419612

Prenatal features of Noonan syndrome.

D L Nisbet1, D R Griffin, L S Chitty.   

Abstract

We report six cases of Noonan syndrome which presented prenatally with sonographic abnormalities. These included increased nuchal fluid, short femora, pleural effusions, hydrops, cardiac and renal abnormalities. A review of all cases of Noonan syndrome seen at two regional genetics centres confirms the association with these sonographic abnormalities. These cases demonstrate the diversity of prenatal presentation of Noonan syndrome and highlight the need to consider this diagnosis, particularly when faced with a fetus with a normal karyotype and varying degrees of oedema or hydrops, with a short femur length. Copyright 1999 John Wiley & Sons, Ltd.

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Year:  1999        PMID: 10419612     DOI: 10.1002/(sici)1097-0223(199907)19:7<642::aid-pd610>3.0.co;2-1

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  12 in total

1.  Noonan syndrome: clinical aspects and molecular pathogenesis.

Authors:  M Tartaglia; G Zampino; B D Gelb
Journal:  Mol Syndromol       Date:  2010-01-15

2.  Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Authors:  Ellen A Croonen; Willy M Nillesen; Kyra E Stuurman; Gretel Oudesluijs; Ingrid M B M van de Laar; Liesbeth Martens; Charlotte Ockeloen; Inge B Mathijssen; Marga Schepens; Martina Ruiterkamp-Versteeg; Hans Scheffer; Brigitte H W Faas; Ineke van der Burgt; Helger G Yntema
Journal:  Eur J Hum Genet       Date:  2013-01-16       Impact factor: 4.246

3.  BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.

Authors:  Vincent A Funari; Deborah Krakow; Lisette Nevarez; Zugen Chen; Tara L Funari; Nithiwat Vatanavicharn; William R Wilcox; David L Rimoin; Stanley F Nelson; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2010-10-08       Impact factor: 11.025

4.  Costello syndrome: clinical diagnosis in the first year of life.

Authors:  M Cristina Digilio; Anna Sarkozy; Rossella Capolino; M Beatrice Chiarini Testa; Giorgia Esposito; Andrea de Zorzi; Renato Cutrera; Bruno Marino; Bruno Dallapiccola
Journal:  Eur J Pediatr       Date:  2007-08-29       Impact factor: 3.183

5.  Antenatal imaging of cutis verticis gyrata.

Authors:  Ana Kennedy; David Perry; Malcolm Battin
Journal:  Pediatr Radiol       Date:  2008-02-02

6.  Fetal phenotypes emerge as genetic technologies become robust.

Authors:  Kathryn J Gray; Louise E Wilkins-Haug; Nancy J Herrig; Neeta L Vora
Journal:  Prenat Diagn       Date:  2019-08-05       Impact factor: 3.050

Review 7.  Noonan syndrome.

Authors:  Ineke van der Burgt
Journal:  Orphanet J Rare Dis       Date:  2007-01-14       Impact factor: 4.123

8.  Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome.

Authors:  Mafalda Mucciolo; Claudio Dello Russo; Laura D'Emidio; Alvaro Mesoraca; Claudio Giorlandino
Journal:  Int J Mol Sci       Date:  2016-06-16       Impact factor: 5.923

Review 9.  Noonan syndrome.

Authors:  Amy E Roberts; Judith E Allanson; Marco Tartaglia; Bruce D Gelb
Journal:  Lancet       Date:  2013-01-10       Impact factor: 79.321

Review 10.  The other side of Turner's: Noonan's syndrome.

Authors:  Pankaj Agarwal; Rajeev Philip; Manish Gutch; K K Gupta
Journal:  Indian J Endocrinol Metab       Date:  2013-09
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