Hallazgos clínicos y genéticos de dos casos con síndrome de Apert
| Autor: | Andrea Avendaño, Michele Callea, Özgül M. Alper, Ercan Mihci, Francisco Cammarata-Scalisi, Elanur Yilmaz |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty 030219 obstetrics & reproductive medicine business.industry Genetic counseling Apert syndrome medicine.disease Dermatology Hypoplasia Craniosynostosis 03 medical and health sciences 0302 clinical medicine Palpebral fissure Acrocephaly 030225 pediatrics Pediatrics Perinatology and Child Health medicine Syndactyly Hypertelorism medicine.symptom business |
| Zdroj: | Boletín Médico del Hospital Infantil de México. 76 |
| ISSN: | 0539-6115 |
| DOI: | 10.24875/bmhim.18000053 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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