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• W2801375988 abstract "Crouzon syndrome (CS) and Beare-Stevenson syndrome (BSS) are craniosynostosis syndromes caused by mutations in the fibroblast growth factor 2 (<i>FGFR2</i>) gene. CS is more common (1 in 60,000 live births) than BSS, where fewer than 20 individuals have been reported. The cardinal features of BSS are craniosynostosis, cutis gyrata, acanthosis nigricans, skin furrows, skin tags, anogenital anomalies, and a prominent umbilical stump. Previously described individuals with BSS have typically had mutations in exon 11 of <i>FGFR2</i>. Here, we present 2 patients with CS who have significant skin manifestations and some phenotypic overlap with BSS. De novo mutations in exon 8 of <i>FGFR2</i> were identified in both; one is a mutation (c.799T>C; p.Ser267Pro) previously identified in individuals with CS and the other a novel in-frame deletion (c.820_824delinsTT; p.Val274_Glu275delinsLeu). No mutations in exon 11 of <i>FGFR2</i>, where previously reported BSS mutations have been located, were identified. This case expands the phenotypic spectrum of CS and highlights the overlap between conditions caused by mutations in <i>FGFR2</i>." @default.
• W2801375988 created "2018-05-17" @default.
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• W2801375988 date "2018-01-01" @default.
• W2801375988 modified "2023-10-16" @default.
• W2801375988 title "Atypical Skin Manifestations in <b><i>FGFR2</i></b>-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum" @default.
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• W2801375988 doi "https://doi.org/10.1159/000488439" @default.
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