Apert syndrome: Repercussions of a diagnosis and late approach
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Abstract
Background: Apert syndrome, also known as acrocephalosyndactyly, is characterized by the clinical triad of craniosynostosis, craniofacial dysmorphism, and bilateral syndactyly of hands and feet. Apert has autosomal dominant inheritance linked to mutations in the fibroblast growth factor receptor (FGFR) gene. The mutation of receptor 2 of FGFR induces the activation of multiple signaling pathways that contribute to osteoblasts' abnormal function. Case report: We describe the case of an 8-year-old boy diagnosed by phenotypic characteristics, showing the characteristic triad, besides turribrachycephaly, frontal protuberance, depression of the nasal bridge, hypoplasia of the middle facial third, bilateral ocular proptosis, high palatal arch, dental crowding, and malocclusion. Conclusions: The multiple affectations in the patient with Apert syndrome make this a pathology that requires a diagnosis and early intervention by a multidisciplinary team to improve the patient's quality of life.
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