Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion

Nélio A.J. Oliveira, Luís G. Alonso, Roberto D. Fanganiello, Maria Rita Passos-Bueno

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

Abstract

BACKGROUND: Pfeiffer syndrome (PS; OMIM #101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, broad thumbs, brachydactyly, broad great toes, and variable syndactyly. CASE: We report a case of PS (type 3) with tracheal and visceral involvement and sacrococcygeal eversion. The patient shows facial dysmorphism with macrocephaly, dolichocephaly, and trigonocephaly, and an asymmetric skull, bilateral and severe exophthalmia with shallow orbits and ocular hypertelorism, downslanting palpebral fissures, constant strabismus, short anterior cranial base, and midface hypoplasia. CONCLUSIONS: Molecular analysis of the FGFR2 gene in this patient revealed a point mutation (c.890G>C NM_000141). This mutation leads to the substitution of the residue tryptophan at position 290 to cysteine in the protein (p.Try290Cys). These data reinforce the hypothesis that the p.Trp290Cys mutation is more often associated with a severe and poor prognosis of PS. Furthermore they suggest that the presence of sacrococcygeal defects is not associated with any specific FGFR2 mutation.

Original languageEnglish (US)
Pages (from-to)629-633
Number of pages5
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
Volume76
Issue number8
DOIs
StatePublished - Aug 1 2006

Keywords

  • FGFR2
  • Pfeiffer type 3
  • Sacrococcygeal eversion
  • Try290Cys

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