TY - JOUR
T1 - Beare-Stevenson syndrome
T2 - Two South American patients with FGFR2 analysis
AU - Pardo Vargas, Rosa Andrea
AU - Boff Maegawa, Gustavo Henrique
AU - Castillo Taucher, Silvia
AU - Leite, Júlio César L.
AU - Sanz, Patricia
AU - Cifuentes, Juan
AU - Parra, Mauro
AU - Muñoz, Hernán
AU - Maranduba, Carlos Magno
AU - Passos-Bueno, Maria R.
PY - 2003/8/15
Y1 - 2003/8/15
N2 - 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.
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.
KW - Beare-Stevenson syndrome
KW - Craniosynostosis
KW - FGFR2 gene
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U2 - 10.1002/ajmg.a.20101
DO - 10.1002/ajmg.a.20101
M3 - Article
C2 - 12900900
AN - SCOPUS:10744232683
VL - 121 A
SP - 41
EP - 46
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -