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

Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that presents as either an isolated diaphragm defect or as part of a complex disorder with a wide array of anomalies (complex CDH). Some patients with complex CDH display distinct craniofacial anomalies such as craniofrontonasa...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	case report craniosynostosis congenital diaphragmatic hernia (CDH) BCL11B craniosynostosis syndromes Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/0e39453c73344b71ac8d697ccb435594
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spelling	oai:doaj.org-article:0e39453c73344b71ac8d697ccb4355942021-12-01T08:23:08ZCase Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?2296-236010.3389/fped.2021.772800https://doaj.org/article/0e39453c73344b71ac8d697ccb4355942021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.772800/fullhttps://doaj.org/toc/2296-2360Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that presents as either an isolated diaphragm defect or as part of a complex disorder with a wide array of anomalies (complex CDH). Some patients with complex CDH display distinct craniofacial anomalies such as craniofrontonasal dysplasia or craniosynostosis, defined by the premature closure of cranial sutures. Using clinical whole exome sequencing (WES), we found a BCL11B missense variant in a patient with a left-sided congenital diaphragmatic hernia as well as sagittal suture craniosynostosis. We applied targeted sequencing of BCL11B in patients with craniosynostosis or with a combination of craniosynostosis and CDH. This resulted in three additional BCL11B missense mutations in patients with craniosynostosis. The phenotype of the patient with both CDH as well as craniosynostosis was similar to the phenotype of previously reported patients with BCL11B missense mutations. Although these findings imply that both craniosynostosis as well as CDH may be associated with BCL11B mutations, further studies are required to establish whether BCL11B variants are causative mutations for both conditions or if our finding was coincidental.Linda GaillardAnne GoverdeQuincy C. C. van den BoschFernanda S. JeheeErwin BrosensDanielle VeenmaFrank MagielsenAnnelies de KleinIrene M. J. MathijssenMarieke F. van DoorenFrontiers Media S.A.articlecase reportcraniosynostosiscongenital diaphragmatic hernia (CDH)BCL11Bcraniosynostosis syndromesPediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	case report craniosynostosis congenital diaphragmatic hernia (CDH) BCL11B craniosynostosis syndromes Pediatrics RJ1-570
spellingShingle	case report craniosynostosis congenital diaphragmatic hernia (CDH) BCL11B craniosynostosis syndromes Pediatrics RJ1-570 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 Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
description	Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that presents as either an isolated diaphragm defect or as part of a complex disorder with a wide array of anomalies (complex CDH). Some patients with complex CDH display distinct craniofacial anomalies such as craniofrontonasal dysplasia or craniosynostosis, defined by the premature closure of cranial sutures. Using clinical whole exome sequencing (WES), we found a BCL11B missense variant in a patient with a left-sided congenital diaphragmatic hernia as well as sagittal suture craniosynostosis. We applied targeted sequencing of BCL11B in patients with craniosynostosis or with a combination of craniosynostosis and CDH. This resulted in three additional BCL11B missense mutations in patients with craniosynostosis. The phenotype of the patient with both CDH as well as craniosynostosis was similar to the phenotype of previously reported patients with BCL11B missense mutations. Although these findings imply that both craniosynostosis as well as CDH may be associated with BCL11B mutations, further studies are required to establish whether BCL11B variants are causative mutations for both conditions or if our finding was coincidental.
format	article
author	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
author_facet	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
author_sort	Linda Gaillard
title	Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
title_short	Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
title_full	Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
title_fullStr	Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
title_full_unstemmed	Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
title_sort	case report and review of the literature: congenital diaphragmatic hernia and craniosynostosis, a coincidence or common cause?
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/0e39453c73344b71ac8d697ccb435594
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Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?

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