Literature DB >> 12002152

Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome.

Alice S Brooks, Marieke van Dooren, Jeannette Hoogeboom, Saskia Gischler, Patrick J Willems, Dick Tibboel.   

Abstract

A 21-month-old Caucasian female with the combination of craniofrontonasal syndrome and a posterolateral defect of the diaphragm (type Bochdalek) is described. This is thought to be a previously undescribed combination. Pedigree analysis is consistent with an X-linked mode of inheritance of the craniofrontonasal syndrome.

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Mesh：

Year:  2002        PMID： 12002152     DOI： 10.1097/00019605-200204000-00019

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  5 in total

Review 1.  Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.

Authors:  Barbara R Pober
Journal:  Am J Med Genet C Semin Med Genet       Date:  2007-05-15       Impact factor: 3.908

2.  Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.

Authors:  Paul Kruszka; Dong Li; Margaret H Harr; Nathan R Wilson; Daniel Swarr; Elizabeth M McCormick; Rosetta M Chiavacci; Mindy Li; Ariel F Martinez; Rachel A Hart; Donna M McDonald-McGinn; Matthew A Deardorff; Marni J Falk; Judith E Allanson; Cindy Hudson; John P Johnson; Irfan Saadi; Hakon Hakonarson; Maximilian Muenke; Elaine H Zackai
Journal:  J Med Genet       Date:  2014-11-20       Impact factor: 6.318

3.  Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.

Authors:  K Taylor Wild; Tia Gordon; Elizabeth J Bhoj; Haowei Du; Shalini N Jhangiani; Jennifer E Posey; James R Lupski; Daryl A Scott; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2020-09-21       Impact factor: 2.802

Review 4.  Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics.

Authors:  Giulia Cannata; Chiara Caporilli; Federica Grassi; Serafina Perrone; Susanna Esposito
Journal:  Int J Mol Sci       Date:  2021-06-14       Impact factor: 5.923

5.  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
  5 in total

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