Literature DB >> 10820409

Diaphragmatic hernia as the first echographic sign in Apert syndrome.

I Witters1, K Devriendt, P Moerman, C van Hole, J P Fryns.   

Abstract

We report left diaphragmatic hernia as the first presenting echographic sign in a malformed male fetus with Apert syndrome. Molecular studies confirmed the presence of a mutation in the FGFR2 gene (Ser 252 Trp). Copyright 2000 John Wiley & Sons, Ltd.

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Year:  2000        PMID： 10820409

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


  4 in total

1.  Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia.

Authors:  Mohammed Joudi Aboud; Mohammed Mojar Al-Shamsy
Journal:  Pediatr Surg Int       Date:  2011-06       Impact factor: 1.827

Review 2.  Underlying genetic etiologies of congenital diaphragmatic hernia.

Authors:  Daryl A Scott; Yoel Gofin; Aliska M Berry; April D Adams
Journal:  Prenat Diagn       Date:  2022-01-22       Impact factor: 3.050

3.  Prenatal diagnosis of congenital diaphragmatic hernia in a fetus with 46,XY/46,X,-Y,+der(Y)t(Y;1)(q12;q12) mosaicism: a case report.

Authors:  Hyun Young Ahn; Jong Chul Shin; Yeon Hee Kim; Hyun Sun Ko; In Yang Park; Sa Jin Kim; Jong Gu Rha; Soo Pyung Kim
Journal:  J Korean Med Sci       Date:  2005-10       Impact factor: 2.153

4.  Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?

Authors:  Linda Gaillard; Anne Goverde; Quincy C C van den Bosch; Fernanda S Jehee; Erwin Brosens; Danielle Veenma; Frank Magielsen; Annelies de Klein; Irene M J Mathijssen; Marieke F van Dooren
Journal:  Front Pediatr       Date:  2021-11-26       Impact factor: 3.418
  4 in total

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