A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tailPresented at the 11th Annual Meeting of the Spanish Society of Clinical Genetics and Dysmorphology, Murcia, Spain, March 2002.

Mutations in the FGFR2 gene are present in several syndromes with craniosynostosis, such as Pfeiffer's, Apert's, and Crouzon's.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.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. Birth Defects Research (Part A), 2004. © 2004 Wiley‐Liss, Inc.