"The syndrome is characterised by 2–5:"
"BSS is most often inherited in an autosomal dominant manner and is associated with pathogenic variants in the FGFR2 gene, most commonly missense mutations p.Tyr375Cys and p.Ser372Cys 3. FGFR2 encodes a fibroblast growth factor receptor involved in bone development, angiogenesis, and embryogenesis, explaining the combined skeletal and cutaneous manifestations 8."
"BSS is most often inherited in an autosomal dominant manner and is associated with pathogenic variants in the FGFR2 gene, most commonly missense mutations p.Tyr375Cys and p.Ser372Cys 3. FGFR2 encodes a fibroblast growth factor receptor involved in bone development, angiogenesis, and embryogenesis, explaining the combined skeletal and cutaneous manifestations 8."
"BSS is most often inherited in an autosomal dominant manner and is associated with pathogenic variants in the FGFR2 gene, most commonly missense mutations p.Tyr375Cys and p.Ser372Cys 3. FGFR2 encodes a fibroblast growth factor receptor involved in bone development, angiogenesis, and embryogenesis, explaining the combined skeletal and cutaneous manifestations 8."
"BSS is most often inherited in an autosomal dominant manner and is associated with pathogenic variants in the FGFR2 gene, most commonly missense mutations p.Tyr375Cys and p.Ser372Cys 3. FGFR2 encodes a fibroblast growth factor receptor involved in bone development, angiogenesis, and embryogenesis, explaining the combined skeletal and cutaneous manifestations 8."
"white matter and corpus callosum abnormalities consistent with FGFR2-related disorders"
"Crouzon Syndrome"
Expected headings
"Clinical presentation"
"posterior fossa anomalies (e.g. reduced vermis height, altered tentorial angle)"