Characterization of esophageal defects in the crouzon mouse model

Dab, Sandeep; Sokhi, Ramanpreet; Lee, Jye-Chang; Sessle, Barry J.; Aubin, Jane E.; Gong, Siew‐Ging

doi:10.1002/bdra.23172

Cited by 2 publications

(1 citation statement)

References 50 publications

(48 reference statements)

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“…Recently, we demonstrated that a mouse model of human CS containing a mutation in codon 290 of Fgfr2 ( Fgfr2 W290R ) presented with numerous gastrointestinal tract (GIT) malformations [Mai et al, ; Dab et al, ]. Duodenal atresia was found with a 35% penetrance in Fgfr2IIIb mutant embryos [Fairbanks et al, ].…”

Section: Introductionmentioning

confidence: 99%

FGFR‐associated craniosynostosis syndromes and gastrointestinal defects

Hibberd

Arudchelvan

Forrest

et al. 2016

American J of Med Genetics Pt A

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Craniosynostosis is a relatively common birth defect characterized by the premature fusion of one or more cranial sutures. Examples of craniosynostosis syndromes include Crouzon (CS), Pfeiffer (PS) and Apert (AS) syndrome, with clinical characteristics such as midface hypoplasia, hypertelorism and in some cases, limb defects. Mutations in Fibroblast Growth Factor Receptor-2 comprise the majority of known mutations in syndromic forms of craniosynostosis. A number of clinical reports of FGFR-associated craniosynostosis patients and mouse mutants have been linked to gastrointestinal tract (GIT) disorders, leading to the hypothesis of a direct link between FGFR-associated craniosynostosis syndromes and GIT malformations. We conducted an investigation to determine GIT symptoms in a sample of FGFR-associated craniosynostosis syndrome patients and a mouse model of CS containing a mutation (W290R) in Fgfr2. We found that, compared to the general population, the incidence of intestinal/bowel malrotation (IM) was present at a higher level in our sample population of patients with FGFR-associated craniosynostosis syndromes. We also showed that the mouse model of CS had an increased incidence of cecal displacement, suggestive of IM. These findings suggest a direct relationship between FGFR-related craniosynostosis syndromes and GIT malformations. Our study may shed further light on the potential widespread impact FGFR mutations on different developmental systems. Based on reports of GIT malformations in children with craniosynostosis syndromes and substantiation with our animal model, GIT malformations should be considered in any child with an FGFR2-associated craniosynostosis syndrome.

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Section: Introductionmentioning

confidence: 99%

FGFR‐associated craniosynostosis syndromes and gastrointestinal defects

Hibberd

Arudchelvan

Forrest

et al. 2016

American J of Med Genetics Pt A

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Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease

Helman

Badhey

Kadakia

et al. 2014

Oral Maxillofac Surg

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Mutations in the FGFR2 are responsible for 50 % of mutations within this multifaceted syndrome. Crouzon syndrome is an autosomal dominant disorder with a number of distinguishing characteristics, including craniosynostosis, maxillary hypoplasia, exophthalmos, and multiple other features. Early intervention, both medically and surgically, as well as disciplined follow-up with the pediatric provider are crucial to the management of this disorder. In particular, management should address cranial suture release, midfacial advancement, evaluation for hearing deficits, and obstructive sleep apnea, with expedient intervention for airway compromise and increased intracranial pressure.

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Characterization of esophageal defects in the crouzon mouse model

Cited by 2 publications

References 50 publications

FGFR‐associated craniosynostosis syndromes and gastrointestinal defects

FGFR‐associated craniosynostosis syndromes and gastrointestinal defects

Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease

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