title: A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail.
abstract: BACKGROUND
  Mutations in the FGFR2 gene are present in several syndromes with craniosynostosis, such as Pfeiffer's, Apert's, and Crouzon's.
  
  
  METHODS
  We report a case of craniosynostosis (Crouzon phenotype) with tracheal anomalies and a sacrococcygeal tail. In addition, the patient shows dolichoplagiocephaly, prominent occiput, proptosis, mild facial asymmetry, strabismus, small umbilical hernia, and syndactyly of the second and third toes.
  
  
  CONCLUSIONS
  Molecular analysis of the FGFR2 gene in this patient revealed a 12-bp insertion (GAGGAGACCTAG) at nucleotide 824. This is an in-frame mutation that adds four amino acid residues to the immunoglobulin IIIa (IgIIIa) domain of the putative protein. This is the first report of an in-frame insertion in exon 8 of FGFR2 in a child with Crouzon's syndrome, tracheal anomalies, and a tail.
authors.affiliation: Section of Medical Genetics, Hospital Universitario La Paz, 28046 Madrid, Spain. plapunzina.hulp@salud.madrid.org
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
authors.forename: Alejandra
authors.initials: A
authors.lastname: Fernández
authors.forename: Juan M
authors.initials: JM
authors.lastname: Sánchez Romero
authors.forename: Alicia
authors.initials: A
authors.lastname: Delicado
authors.forename: Miguel
authors.initials: M
authors.lastname: Sáenz de Pipaon
authors.forename: Isidora
authors.initials: I
authors.lastname: López Pajares
authors.forename: Jesús
authors.initials: J
authors.lastname: Molano
mesh_terms: D001483:Base Sequence; D003050:Coccyx / Q000002:abnormalities*; D003394:Craniofacial Dysostosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics* / Q000378:metabolism; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics* / Q000378:metabolism; D012445:Sacrococcygeal Region / Q000002:abnormalities; D014132:Trachea / Q000002:abnormalities
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2