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  • Title: A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail.
    Author: Lapunzina P, Fernández A, Sánchez Romero JM, Delicado A, Sáenz de Pipaon M, López Pajares I, Molano J.
    Journal: Birth Defects Res A Clin Mol Teratol; 2005 Jan; 73(1):61-4. PubMed ID: 15602758.
    Abstract:
    BACKGROUND: Mutations in the FGFR2 gene are present in several syndromes with craniosynostosis, such as Pfeiffer's, Apert's, and Crouzon's. CASE: 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.
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