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Clinical and genetic findings of two cases with Apert syndrome.
Bol Med Hosp Infant Mex. 2019; 76(1):44-48.BM

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.

Authors+Show Affiliations

Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela.Department of Medical Biology and Genetics, Akdeniz University Medical School, Antalya, Turkey.Unit of Dentistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela.Department of Pediatric Genetics, Akdeniz University Medical School, Antalya, Turkey.Department of Medical Biology and Genetics, Akdeniz University Medical School, Antalya, Turkey.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

30657466

Citation

Cammarata-Scalisi, Francisco, et al. "Clinical and Genetic Findings of Two Cases With Apert Syndrome." Boletin Medico Del Hospital Infantil De Mexico, vol. 76, no. 1, 2019, pp. 44-48.
Cammarata-Scalisi F, Yilmaz E, Callea M, et al. Clinical and genetic findings of two cases with Apert syndrome. Bol Med Hosp Infant Mex. 2019;76(1):44-48.
Cammarata-Scalisi, F., Yilmaz, E., Callea, M., Avendaño, A., Mıhçı, E., & Alper, O. M. (2019). Clinical and genetic findings of two cases with Apert syndrome. Boletin Medico Del Hospital Infantil De Mexico, 76(1), 44-48. https://doi.org/10.24875/BMHIM.18000053
Cammarata-Scalisi F, et al. Clinical and Genetic Findings of Two Cases With Apert Syndrome. Bol Med Hosp Infant Mex. 2019;76(1):44-48. PubMed PMID: 30657466.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical and genetic findings of two cases with Apert syndrome. AU - Cammarata-Scalisi,Francisco, AU - Yilmaz,Elanur, AU - Callea,Michele, AU - Avendaño,Andrea, AU - Mıhçı,Ercan, AU - Alper,Ozgul M, PY - 2019/1/19/entrez PY - 2019/1/19/pubmed PY - 2020/1/31/medline KW - Apert syndrome KW - Asesoramiento genético KW - Clinical KW - Clínica KW - FGFR2 gene KW - Gen FGFR2 KW - Genetic counseling KW - Síndrome de Apert KW - c.755C>G, p.Ser252Trp SP - 44 EP - 48 JF - Boletin medico del Hospital Infantil de Mexico JO - Bol Med Hosp Infant Mex VL - 76 IS - 1 N2 - 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. SN - 1665-1146 UR - https://www.unboundmedicine.com/medline/citation/30657466/Clinical_and_genetic_findings_of_two_cases_with_Apert_syndrome_ L2 - http://www.bmhim.com/frame_esp.php?id=69 DB - PRIME DP - Unbound Medicine ER -