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Case Reports in Perinatal Medicine

Official Journal of the World Association of Perinatal Medicine

Editor-in-Chief: Dudenhausen, MD, FRCOG, Joachim W.

Ed. by Chandraharan, Edwin / Lee, Ben H. / Weichert, Alexander

Editorial Board: Aslam, Muhammad / Bergmann, Renate L. / Bancalari, Eduardo / Bernardes, J.F. / Blickstein, Isaac / Cabero Roura, Luis / Carbonell-Estrany, Xavier / Carrera, Jose M. / Chervenak, Frank A. / Chappelle, Joseph / D`Addario, Vincenzo / D'Alton, MD, Mary E. / Genc, Mehmet R. / Greenough, Anne / Grunebaum, Amos / Hentschel, Roland / Holzgreve, Wolfgang / Keirse, Marc J.N.C. / Kurjak M.D., Asim / Lockwood, Charles J. / Marsal, Karel / Martinez, Chairman, Jorge Cesar / Niklas, Victoria / Papp, Zoltán / Pejaver, Ranjan Kumar / Pooh, Ritsuko K. / Schenker, Joseph G. / Sen, Cihat / Seri, Istvan / Skupski, Daniel W. / Vetter, Klaus / Winn, Hung N. / Young, Bruce K. / Zimmermann, Roland

Online
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2192-8959
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A rare case of acrocephaly: Saethre-Chotzen syndrome or Crouzon?

Rebeca Garrote Molpeceres
  • Corresponding author
  • Hospital Clínico Universitario de Valladolid – Pediatría y sus Áreas Específicas, Avda. Ramón y Cajal, 3 Valladolid Valladolid 47003, Spain, Tel.: +34 699306093/983556053
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/ Elena Urbaneja Rodriguez
  • Hospital Clínico Universitario de Valladolid – Pediatría y sus Áreas Específicas, Valladolid, Spain
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/ Hemenegildo González García
  • Hospital Clínico Universitario de Valladolid – Pediatría y sus Áreas Específicas, Valladolid, Spain
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/ María Asunción Pino Vázquez
  • Hospital Clínico Universitario de Valladolid – Pediatría y sus Áreas Específicas, Neonatología, Valladolid, Spain
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/ José Luis Hernanz Sanz
  • Hospital Clínico Universitario de Valladolid – Pediatría y sus Áreas Específicas, Neonatología, Valladolid, Spain
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/ Francisco Javier Álvarez Guisasola
  • Hospital Clínico Universitario de Valladolid – Jefe de Servicio de Pediatría y sus Áreas Específicas, Valladolid, Spain
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Published Online: 2016-04-23 | DOI: https://doi.org/10.1515/crpm-2015-0057

Abstract

Acrocephaly is a common neonatal craniofacial malformation. Saethre-Chotzen syndrome (SCS) is one of the acrocephaly related syndromes less frequently described in the literature. A female newborn term was admitted to our Neonatal Unit to study craniofacial dysmorphia without family history of interest. Pregnancy, childbirth and the neonatal period were uneventful. She had exotropia, short anterior-posterior cranial diameter, flat occiput and wide normotensive anterior fontanelle (beginning at the nose root, continuing through the sagittal suture with the posterior fontanelle) without syndactyly. The scanner imaging confirmed an acrocephaly with fusion of bilateral coronal sutures. We initially suspected a cranyosinostosis due to a Crouzon syndrome or SCS. After differential diagnosis and genetic study the patient was diagnosed as having SCS due to a de novo TWIST1 gene mutation. The craniofacial dysmorphias were corrected early by neurosurgical with good results. This case shows a new example of the phenotypic and genotypic variability of these TWIST1 gene mutations.

Keywords: Acrocephaly; craniofacial dysmorphia; Saethre-Chotzen syndrome; TWIST1 gene

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About the article

Received: 2015-07-31

Accepted: 2016-03-31

Published Online: 2016-04-23

Published in Print: 2016-09-01


The authors stated that there are no conflicts of interest regarding the publication of this article.


Citation Information: Case Reports in Perinatal Medicine, Volume 5, Issue 2, Pages 151–155, ISSN (Online) 2192-8959, ISSN (Print) 2192-8932, DOI: https://doi.org/10.1515/crpm-2015-0057.

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