Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis

Rosa Andrea Pardo Vargas; Gustavo Henrique Boff Maegawa; Silvia Castillo Taucher; Júlio César L. Leite; Patricia Sanz; Juan Cifuentes; Mauro Parra; Hernán Muñoz; Carlos Magno Maranduba; Maria R. Passos-Bueno

Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis

Rosa Andrea Pardo Vargas, Gustavo Henrique Boff Maegawa, Silvia Castillo Taucher, Júlio César L. Leite, Patricia Sanz, Juan Cifuentes, Mauro Parra, Hernán Muñoz, Carlos Magno Maranduba, Maria R. Passos-Bueno

School of Medicine

Research output: Contribution to journal › Article

Abstract

We report two patients with Beare-Stevenson syndrome. This syndrome presents craniosynostosis with or without clover-leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients presented at birth with craniofacial anomalies, variable cutis gyrata in forehead and preauricular regions, prominent umbilical stump and anogenital anomalies. Furrowed palms and soles were also observed. The radiologic examination showed a cloverleaf-form craniosynostosis. Chromosomes were normal. They were born with respiratory distress and were connected to mechanical ventilation for ventilatory support. Both of them died in 50 days after birth due to secondary complications. The molecular analysis of these patients identified the mutation Tyr375Cys in the FGFR2 gene.

Original language	English (US)
Pages (from-to)	41-46
Number of pages	6
Journal	American Journal of Medical Genetics
Volume	121 A
Issue number	1
State	Published - Aug 15 2003

Keywords

Beare-Stevenson syndrome
Craniosynostosis
FGFR2 gene

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Pardo Vargas, R. A., Boff Maegawa, G. H., Castillo Taucher, S., Leite, J. C. L., Sanz, P., Cifuentes, J., Parra, M., Muñoz, H., Maranduba, C. M., & Passos-Bueno, M. R. (2003). Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis. American Journal of Medical Genetics, 121 A(1), 41-46.

Beare-Stevenson syndrome : Two South American patients with FGFR2 analysis. / Pardo Vargas, Rosa Andrea; Boff Maegawa, Gustavo Henrique; Castillo Taucher, Silvia; Leite, Júlio César L.; Sanz, Patricia; Cifuentes, Juan; Parra, Mauro; Muñoz, Hernán; Maranduba, Carlos Magno; Passos-Bueno, Maria R.

In: American Journal of Medical Genetics, Vol. 121 A, No. 1, 15.08.2003, p. 41-46.

Research output: Contribution to journal › Article

Pardo Vargas, Rosa Andrea ; Boff Maegawa, Gustavo Henrique ; Castillo Taucher, Silvia ; Leite, Júlio César L. ; Sanz, Patricia ; Cifuentes, Juan ; Parra, Mauro ; Muñoz, Hernán ; Maranduba, Carlos Magno ; Passos-Bueno, Maria R. / Beare-Stevenson syndrome : Two South American patients with FGFR2 analysis. In: American Journal of Medical Genetics. 2003 ; Vol. 121 A, No. 1. pp. 41-46.

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AB - We report two patients with Beare-Stevenson syndrome. This syndrome presents craniosynostosis with or without clover-leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients presented at birth with craniofacial anomalies, variable cutis gyrata in forehead and preauricular regions, prominent umbilical stump and anogenital anomalies. Furrowed palms and soles were also observed. The radiologic examination showed a cloverleaf-form craniosynostosis. Chromosomes were normal. They were born with respiratory distress and were connected to mechanical ventilation for ventilatory support. Both of them died in 50 days after birth due to secondary complications. The molecular analysis of these patients identified the mutation Tyr375Cys in the FGFR2 gene.

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