Tracheal cartilaginous sleeve in Crouzon syndrome

Scheid, Sara C.; Spector, Andrew R.; Luft, Jay

doi:10.1016/s0165-5876(02)00132-5

Cited by 30 publications

(9 citation statements)

References 13 publications

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“…Mouse Fgfr2(IIIb) À/À embryos fail to form the tracheal bifurcation and show defects in lung development (De Moerlooze et al, 2000). In addition, abnormal trachea development or alterations are not rare among FGFR2 mutated patients (Cohen and Maclean, 2000;Scheid et al, 2002;Gonzales et al, 2005;Lapunzina et al, 2005). These, together with the data of the present report, further strengthen the role of FGF/ FGFR signaling in formation of the tracheal system in humans.…”

Section: Discussionsupporting

confidence: 81%

Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion

Oliveira

Alonso

Fanganiello

et al. 2006

Birth Defects Research

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Molecular analysis of the FGFR2 gene in this patient revealed a point mutation (c.890G>C NM_000141). This mutation leads to the substitution of the residue tryptophan at position 290 to cysteine in the protein (p.Try290Cys). These data reinforce the hypothesis that the p.Trp290Cys mutation is more often associated with a severe and poor prognosis of PS. Furthermore they suggest that the presence of sacrococcygeal defects is not associated with any specific FGFR2 mutation.

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Section: Discussionsupporting

confidence: 81%

Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion

Oliveira

Alonso

Fanganiello

et al. 2006

Birth Defects Research

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“…Tracheal abnormalities were reported in several children with Crouzon phenotype (Schmid, 1971;Devine et al, 1984;Stone et al, 1990;Anton-Pacheco et al, 2001;Scheid et al, 2002) and Pfeiffer's and Apert's syndromes (reviewed by Cohen and Kreiborg, 1992;Cohen and MacLean, 2000). Their findings should be taken into ac- Figure 2.…”

Section: Discussionmentioning

confidence: 99%

A novel insertion in theFGFR2gene in a patient with Crouzon phenotype and sacrococcygeal tail

Lapunzina

Fernández

Romero

et al. 2004

Birth Defects Research Part A: Clinical and Molecular Teratolog

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“…In humans, Crouzon syndrome craniofacial phenotypes are variable but typically include premature closure of the coronal suture (either unilateral or bilateral) associated with a turribrachycephalic or brachycephalic cranial vault, generalized neurocranial dysmorphology, midfacial deficiency, shallow orbits, and ocular proptosis (Cohen and MacLean, 2000). Children with Crouzon syndrome can show additional symptoms affecting other head structures, such as cleft palate (Peterson and Pruzansky, 1974; Riley et al, 2007), upper airway obstruction (Moore, 1993; Sirotnak et al, 1995; Perkins et al, 1997; Scheid et al, 2002; Mitsukawa et al, 2004; Mitsukawa and Satoh, 2010; Randhawa et al, 2011), dysmorphology of the nasopharynx and contiguous structures that impair velopharyngeal function and nasal respiratory physiology (Peterson-Falzone et al, 1981; Johnson and Wilkie, 2011), and mild or moderate hearing loss (conductive, sensorineural, or mixed) often caused by recurrent otitis media effusion, ossicular chain fixation and external auditory canal atresia (Cremers, 1981; Vallino-Napoli, 1996; Orvidas et al, 1999; Cohen and MacLean, 2000; de Jong et al, 2011; Huh et al, 2012). Brain anomalies do not occur frequently in Crouzon syndrome but ventriculomegaly is fairly common (Proudman et al, 1995).…”

Section: Introductionmentioning

confidence: 99%

Tissue‐specific responses to aberrant FGF signaling in complex head phenotypes

Martínez‐Abadías

Motch

Pankratz

et al. 2012

Developmental Dynamics

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Background The role of fibroblast growth factor and receptor (FGF/FGFR) signaling in bone development is well studied, partly because mutations in FGFRs cause human diseases of achondroplasia and FGFR-related craniosynostosis syndromes including Crouzon syndrome. The FGFR2c C342Y mutation is a frequent cause of Crouzon syndrome, characterized by premature cranial vault suture closure, midfacial deficiency and neurocranial dysmorphology. Here, using newborn Fgfr2cC342Y/+ Crouzon syndrome mice, we tested whether the phenotypic effects of this mutation go beyond the skeletal tissues of the skull, altering the development of other non-skeletal head tissues including the brain, the eyes, the nasopharynx and the inner ears. Results Quantitative analysis of 3D multimodal imaging (high resolution micro computed tomography and magnetic resonance microscopic images) revealed local differences in skull morphology and coronal suture patency between Fgfr2cC342Y/+ mice and unaffected littermates, as well as changes in brain shape but not brain size, significant reductions in nasopharyngeal and eye volumes, and no difference in inner ear volume in Fgfr2cC342Y/+ mice. Conclusion These findings provide an expanded catalogue of clinical phenotypes in Crouzon syndrome caused by aberrant FGF/FGFR signaling and evidence of the broad role for FGF/FGFR signaling in development and evolution of the vertebrate head.

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Tracheal cartilaginous sleeve in Crouzon syndrome

Cited by 30 publications

References 13 publications

Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion

Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion

A novel insertion in theFGFR2gene in a patient with Crouzon phenotype and sacrococcygeal tail

Tissue‐specific responses to aberrant FGF signaling in complex head phenotypes

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