Síndrome de Apert- relato de caso
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Data
2012-09
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Resumo
Apert syndrome is a rare autosomal dominant disease, associated with mutations in the FGFR2 gene. Clinically, it is characterized
by craniosynostosis and syndactyly. Other anomalies include ocular proptosis, downward slanting palpebral fissures, narrow
nose, visceral, elbows, shoulders, skeleton and CNS anomalies, the latter usually results in mental retardation. Given that, both
the limb and craniofacial deformities could cause patients to suffer limitations in their socialization and have their opportunities
reduced, including classroom learning if there is not a multidisciplinary team action, as soon as they detect the disease, this paper
aimed to report a case of Apert Syndrome diagnosed at birth and discuss it in light of the published medical literature to date.
Descrição
Palavras-chave
Síndrome de Apert, Ultrassonografia, Diagnóstico, Sindactilia, Craniosinostose, Tratamento, Apert syndrome, Treatment, Diagnosis, Craniosynostosis ultrasonography, Syndactyly
Citação
AMARAL, Alexandre Alcides Bezerra do et al. Síndrome de Apert- relato de caso. RBUS: revista brasileira de ultra-Sonografia, Goiânia, v. 13, p. 40-42, 2012.