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2013, Number 4

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Acta Med 2013; 11 (4)

Apert syndrome

Reséndiz MIA, Nava UE

Language: Spanish
References: 54
Page: 173-179
PDF size: 260.43 Kb.


ABSTRACT

Apert syndrome (AS), also called acrocephalosyndactyly type 1, is characterized by the early closure of the cranial sutures (craniosynostosis), symmetric syndactyly of hands and feet and altered facial midline and may present low or normal IQ. The prevalence reaches as high as 1 in 2,100 births to 1 in 160,000 live births. Metopic craniosynostosis is most commonly found in patients with Apert syndrome leading to a shortening of the skull and A-P asymmetric limits growth and brain development. It is accepted that the origin of Apert is due to a sporadic mutation, in most cases, resulting in a gain of function factor receptor 2 of fibroblast growth by its acronym FGFR2. The mutation in FGF receptor 2 Apert induces the activation of multiple signaling pathways that contribute to the abnormal function of osteoblasts. By the time the treatment that is available is preeminently surgical palliation consisting essentially present in separate synostosis sindactily skull and in the pelvic limbs and chest.


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