Prenatal sonographic appearance of Beare‐Stevenson cutis gyrata syndrome: two‐ and three‐dimensional ultrasonographic findings

Hsu, Te‐Yao; Chang, Shiuh‐Young; Wang, Tu-Jou; Ou, Chia-Yu; Chen, Zen-Huang; Hsu, Pei-Hua

doi:10.1002/pd.136

Cited by 15 publications

(17 citation statements)

References 10 publications

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“…A summation of all audiological series of Beare Stevenson syndrome reveals hearing loss in 1/26 patients (4%). Of these 26 patients reported to date, 24 have descriptions of the physical examination of the ear [40,61,62,[64][65][66][67][68][69][70][71][72][73][74][75][76][77][78]. Of these 24 patients, only one patient was not described as having ear malformations.…”

Section: Jackson-weiss Syndrome Beare-stevenson Syndrome and Crouzonmentioning

confidence: 99%

Hearing loss in syndromic craniosynostoses: Otologic manifestations and clinical findings

Agochukwu

Solomon

Muenke

2014

International Journal of Pediatric Otorhinolaryngology

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Section: Jackson-weiss Syndrome Beare-stevenson Syndrome and Crouzonmentioning

confidence: 99%

Hearing loss in syndromic craniosynostoses: Otologic manifestations and clinical findings

Agochukwu

Solomon

Muenke

2014

International Journal of Pediatric Otorhinolaryngology

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“…Urethral birth defects such as hypospadias have been reported to be increasing in several countries (Vargas et al 2003;Hsu et al 2001;Baskin 2004). Further analysis is required to elucidate accurate details of urethra formation.…”

Section: Fgf10-fgfr2iiib Signaling and Its Relation To Urethra Formatmentioning

confidence: 99%

Regulation of external genitalia development by concerted actions of FGF ligands and FGF receptors

et al. 2004

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Members of the fibroblast growth factor (FGF) family play diverse roles during the development and patterning of various organs. In human and mice, 22 FGFs and four receptors derived from several splice variants are present. Redundant expression and function of FGF genes in organogenesis have been reported, but their roles in embryonic external genitalia, genital tubercle (GT), development have not been studied in detail. To address the role of FGF during external genitalia development, we have analyzed the expression of FGF genes (Fgf8, 9, 10) and receptor genes (Fgfr1, r2IIIb, r2IIIc) in GT of mice. Furthermore, Fgf10 and Fgfr2IIIb mutant mice were analyzed to elucidate their roles in embryonic external genitalia development. Fgfr2IIIb was expressed in urethral plate epithelium during GT development. Fgfr2IIIb mutant mice display urethral dysmorphogenesis. Marker gene analysis for urethral plate and bilateral mesenchymal formation suggests the existence of epithelial-mesenchymal interaction during urethral morphogenesis. Therefore, FGF10/FGFR2IIIb signals seem to constitute a developmental cascade for such morphogenesis.

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“…Craniosynostosis occurs in 1 in 2,500 newborns across all ethnicities and is present in more than 100 human skeletal syndromes (10)(11)(12)(13). The FGF receptor (FGFR) mutations that underlie the genetic basis of BSS are FGFR2 Y375C and S372C (human FGFR2 IIIc protein NP_000132.3) of the juxtamembrane domain (4,(14)(15)(16)(17)(18)(19).…”

Section: Introductionmentioning

confidence: 99%

p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice

Wang¹,

Zhou²,

Oberoi³

et al. 2012

J. Clin. Invest.

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Beare-Stevenson cutis gyrata syndrome (BSS) is a human genetic disorder characterized by skin and skull abnormalities. BSS is caused by mutations in the FGF receptor 2 (FGFR2), but the molecular mechanisms that induce skin and skull abnormalities are unclear. We developed a mouse model of BSS harboring a FGFR2 Y394C mutation and identified p38 MAPK as an important signaling pathway mediating these abnormalities. Fgfr2 +/Y394C mice exhibited epidermal hyperplasia and premature closure of cranial sutures (craniosynostosis) due to abnormal cell proliferation and differentiation. We found ligand-independent phosphorylation of FGFR2 and activation of p38 signaling in mutant skin and calvarial tissues. Treating Fgfr2 +/Y394C mice with a p38 kinase inhibitor attenuated skin abnormalities by reversing cell proliferation and differentiation to near normal levels. This study reveals the pleiotropic effects of the FGFR2 Y394C mutation evidenced by cutis gyrata, acanthosis nigricans, and craniosynostosis and provides a useful model for investigating the molecular mechanisms of skin and skull development. The demonstration of a pathogenic role for p38 activation may lead to the development of therapeutic strategies for BSS and related conditions, such as acanthosis nigricans or craniosynostosis.

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Prenatal sonographic appearance of Beare‐Stevenson cutis gyrata syndrome: two‐ and three‐dimensional ultrasonographic findings

Cited by 15 publications

References 10 publications

Hearing loss in syndromic craniosynostoses: Otologic manifestations and clinical findings

Hearing loss in syndromic craniosynostoses: Otologic manifestations and clinical findings

Regulation of external genitalia development by concerted actions of FGF ligands and FGF receptors

p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice

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