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Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.
Birth Defects Res A Clin Mol Teratol. 2006 Aug; 76(8):629-33.BD

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.

Authors+Show Affiliations

Oliveira NA
Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Alonso LG
No affiliation info available
Fanganiello RD
No affiliation info available
Passos-Bueno MR
No affiliation info available

MeSH

AcrocephalosyndactyliaAmino Acid SubstitutionDNA Mutational AnalysisFemaleHumansInfantPhenotypePoint MutationPrognosisReceptor, Fibroblast Growth Factor, Type 2Sacrococcygeal Region

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16955501

Citation

Oliveira, Nélio A J., et al. "Further Evidence of Association Between Mutations in FGFR2 and Syndromic Craniosynostosis With Sacrococcygeal Eversion." Birth Defects Research. Part A, Clinical and Molecular Teratology, vol. 76, no. 8, 2006, pp. 629-33.
Oliveira NA, Alonso LG, Fanganiello RD, et al. Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. Birth Defects Res A Clin Mol Teratol. 2006;76(8):629-33.
Oliveira, N. A., Alonso, L. G., Fanganiello, R. D., & Passos-Bueno, M. R. (2006). Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. Birth Defects Research. Part A, Clinical and Molecular Teratology, 76(8), 629-33.
Oliveira NA, et al. Further Evidence of Association Between Mutations in FGFR2 and Syndromic Craniosynostosis With Sacrococcygeal Eversion. Birth Defects Res A Clin Mol Teratol. 2006;76(8):629-33. PubMed PMID: 16955501.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. AU - Oliveira,Nélio A J, AU - Alonso,Luís G, AU - Fanganiello,Roberto D, AU - Passos-Bueno,Maria Rita, PY - 2006/9/7/pubmed PY - 2006/11/10/medline PY - 2006/9/7/entrez SP - 629 EP - 33 JF - Birth defects research. Part A, Clinical and molecular teratology JO - Birth Defects Res A Clin Mol Teratol VL - 76 IS - 8 N2 - 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. SN - 1542-0752 UR - https://www.unboundmedicine.com/medline/citation/16955501/Further_evidence_of_association_between_mutations_in_FGFR2_and_syndromic_craniosynostosis_with_sacrococcygeal_eversion_ DB - PRIME DP - Unbound Medicine ER -