title: Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.
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.
authors.affiliation: Sección de Genética, Hospital Clínico Universidad de Chile, Santiago, Chile. rpardo@ns.hospital.uchile.cl
authors.forename: Rosa Andrea Pardo
authors.initials: RA
authors.lastname: Vargas
authors.forename: Gustavo Henrique Boff
authors.initials: GH
authors.lastname: Maegawa
authors.forename: Silvia Castillo
authors.initials: SC
authors.lastname: Taucher
authors.forename: Júlio César L
authors.initials: JC
authors.lastname: Leite
authors.forename: Patricia
authors.initials: P
authors.lastname: Sanz
authors.forename: Juan
authors.initials: J
authors.lastname: Cifuentes
authors.forename: Mauro
authors.initials: M
authors.lastname: Parra
authors.forename: Hernán
authors.initials: H
authors.lastname: Muñoz
authors.forename: Carlos Magno
authors.initials: CM
authors.lastname: Maranduba
authors.forename: Maria R
authors.initials: MR
authors.lastname: Passos-Bueno
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001938:Brazil; D002677:Chile; D003398:Craniosynostoses / Q000150:complications / Q000235:genetics; D017931:DNA Primers; D017809:Fatal Outcome; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013577:Syndrome
chemical_list: D017931:DNA Primers; D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2