Second case of Beare–Stevenson syndrome with an FGFR2 Ser372Cys mutation
R Fonseca, MA Costa‐Lima… - American Journal of …, 2008 - Wiley Online Library
R Fonseca, MA Costa‐Lima, V Cosentino, IM Orioli
American Journal of Medical Genetics Part A, 2008•Wiley Online LibraryBeare–Stevenson syndrome is characterized by cutis gyrata, acanthosis nigricans, skin
furrows, skin tags, craniosynostosis, Crouzonoid‐like features in some cases and cloverleaf
skull in others, anogenital anomalies, and prominent umbilical stump. Reported causes are
an FGFR2 Tyr375Cys mutation in nine cases and an FGFR2 Ser372Cys mutation in one
case. Here, we report on a second patient with the FGFR2 Ser372Cys mutation.© 2008
Wiley‐Liss, Inc.
furrows, skin tags, craniosynostosis, Crouzonoid‐like features in some cases and cloverleaf
skull in others, anogenital anomalies, and prominent umbilical stump. Reported causes are
an FGFR2 Tyr375Cys mutation in nine cases and an FGFR2 Ser372Cys mutation in one
case. Here, we report on a second patient with the FGFR2 Ser372Cys mutation.© 2008
Wiley‐Liss, Inc.
Abstract
Beare–Stevenson syndrome is characterized by cutis gyrata, acanthosis nigricans, skin furrows, skin tags, craniosynostosis, Crouzonoid‐like features in some cases and cloverleaf skull in others, anogenital anomalies, and prominent umbilical stump. Reported causes are an FGFR2 Tyr375Cys mutation in nine cases and an FGFR2 Ser372Cys mutation in one case. Here, we report on a second patient with the FGFR2 Ser372Cys mutation. © 2008 Wiley‐Liss, Inc.
Wiley Online Library