Clinical and genetic findings of two cases with Apert syndrome.

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Cammarata-Scalisi F., Yilmaz E., Callea M., Avendaño A., Mıhçı E., Alper O. M.

Boletin medico del Hospital Infantil de Mexico, vol.76, pp.44-48, 2019 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 76
  • Publication Date: 2019
  • Doi Number: 10.24875/bmhim.18000053
  • Journal Name: Boletin medico del Hospital Infantil de Mexico
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Page Numbers: pp.44-48
  • Keywords: Apert syndrome, Clinical, FGFR2 gene. c. 755C > G, p.Ser252Trp, Genetic counseling, FGFR2 GENE, MUTATIONS, CRANIOSYNOSTOSIS, ABNORMALITIES, SUBSTITUTIONS, MANAGEMENT, ULTRASOUND, DIAGNOSIS
  • Akdeniz University Affiliated: Yes

Abstract

Background: Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group of alterations which produce an abnormal phenotype. Case report: Two unrelated female patients with clinical findings of Apert syndrome- characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present. In both patients, a heterozygous missense mutation (c. 755C>G, p. Ser252Trp) in the FGFR2 gene was identified. Conclusions: Two cases of Apert syndrome are described. It is important to recognize this uncommon entity through clinical findings, highlight interdisciplinary medical evaluation, and provide timely genetic counseling for the family.