Literature DB >> 12001198

Prenatal findings in a monozygotic twin pregnancy with Costello syndrome.

T Van den Bosch1, D Van Schoubroeck, J P Fryns, G Naulaers, A M Inion, K Devriendt.   

Abstract

This report describes the prenatal findings in monozygotic twins with Costello syndrome. At 16 weeks one twin had 9 mm of nuchal oedema: coarctation of the aorta was diagnosed after birth. At 22(5/7) weeks relative macrocephaly, mild pyelectasia and moderate polyhydramnios were noted in both twins. In the following 4 weeks the polyhydramnios increased significantly without visualisation of filling of the stomach. Between 27(5/7) and 30(2/7) weeks a total of 9 l amniotic fluid was drained and at 30(4/7) weeks prelabor premature rupture of membranes (PPROM) occurred followed by premature labor and delivery. The neonatal period was complicated by growth retardation, deglutition problems, hypotonia, cardiac and respiratory problems. Both twins died on Day 57 because of respiratory insufficiency. Copyright 2002 John Wiley & Sons, Ltd.

Entities:  

Mesh:

Year:  2002        PMID: 12001198     DOI: 10.1002/pd.333

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


  6 in total

1.  Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

Authors:  Karen W Gripp; Deborah L Stabley; Peter L Geller; Elizabeth Hopkins; David A Stevenson; John C Carey; Katia Sol-Church
Journal:  Am J Med Genet A       Date:  2011-08-10       Impact factor: 2.802

2.  Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Authors:  Karen W Gripp; Lindsey A Morse; Marni Axelrad; Kathryn C Chatfield; Aaron Chidekel; William Dobyns; Daniel Doyle; Bronwyn Kerr; Angela E Lin; David D Schwartz; Barbara J Sibbles; Dawn Siegel; Suma P Shankar; David A Stevenson; Mihir M Thacker; K Nicole Weaver; Sue M White; Katherine A Rauen
Journal:  Am J Med Genet A       Date:  2019-06-20       Impact factor: 2.802

3.  Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

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
Journal:  Prenat Diagn       Date:  2009-07       Impact factor: 3.050

4.  Respiratory system involvement in Costello syndrome.

Authors:  Natalia Gomez-Ospina; Christin Kuo; Amitha Lakshmi Ananth; Angela Myers; Marie-Luise Brennan; David A Stevenson; Jonathan A Bernstein; Louanne Hudgins
Journal:  Am J Med Genet A       Date:  2016-04-22       Impact factor: 2.802

5.  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

6.  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

  6 in total

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