Exemplos de uso de Apert em Inglês e suas traduções para o Português
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Analysis of midface retrusion andorbital dysmorphology in children with Apert and… Clinical Surgery.
Apert was the author of many works in the field of pediatrics, including an influential manual on child rearing.
Described the results of a pilot study on speech andlanguage skills as well as other cognitive functions in ten individuals with the Apert Syndrome.
It was first described by Wheaton in 1894 anddenominated Acrocephalossyndactylias. In 1906, Apert conducted a systematic study of nine cases and defined its characteristics.
The condition came to be known as"Apert syndrome", a syndrome consisting of a triad of disorders, namely craniosynostosis, syndactyly and maxillary underdevelopment.
Over 150 syndromes that can include craniostenosis as part of their clinical presentation have been identified; Apert and Crouzon syndromes are the most frequent.
The sample included 11 patients- crouzon(n=8) and apert(n=3)- submmited to a craniofacial surgery advancement of the midface using an elastic distraction divice since 2006 up to 2014.
It was noted whether the patient had syndactyly as an isolated congenital disease orwhether it was part of the manifestations of components of syndromes such as Apert or Poland, among others.
Sixteen 34% patients had some genetic syndrome six cases of Apert syndrome, two cases of Down's, one of Poland's and seven different syndromes, 31 66% patients had no associated syndromes.
During the meeting plastic surgeon Dr. PaulTessier presented principles and techniques for correction of patients with Crouzon, Apert, and hypertelorism syndromes.
The Apert syndrome has statements similar to those found in the Crouzon's syndrome associated to malformation of the hands and feet, with symmetric syndactylus generally including the second, third and fourth digits 6,9.
It is a congenital anomaly that may be present as an isolated defect, but generally is classified as dysostotic syndromes such as achondroplasia,craniofacial dysostosis Crouzon syndrome, Apert or Pfeiffer syndromes.
And out of the more than 70 syndromes described,the Crouzon's syndrome and the Apert syndrome are the most known ones, and several researches have been carried out in the last 10 years to allow for a better understanding of theses diseases etiology and pathogenesis 3,4.
These questionnaires may be applicable for measuring vocal resonance among patients with cleft lips and palates, cleft palates orother syndromes where cleft palate is part of the clinical spectrum of the disease e.g., Apert syndrome and Pierre Robin sequence.
An important information is that more than 50% of the patients with Crouzon's syndrome have mutations in FGFR2, andthese mutations are also observed in the syndromes of Apert, Pfeiffer and Jackson-Weiss, highlighting the importance and complexity of this factor in the development of the cranial sutures and their pathologies 6,9.
Some of these deformities occur in isolation, but there are associations with systemic syndromes that may involve blood dyscrasia, cardiopathies, central nervous system CNS malformations, digestive tract malformations or delayed neuropsychomotor development. These syndromes include Holt-Oram, Fanconi anemia,TAR, Apert, VACTER-L, Poland, Cornelia de Lange, Nager, etc.
It is well known that advanced paternal age> 40 years is associated with a risk increase in different diseases,such as achondroplasia, Apert Syndrome and Neurofibromatosis, and a relation with CLP is possible. Association of mutations in MSX1 muscle segment homeobox and CLP corroborates the hypothesis of the relation between paternal age and CLP, which has been observed in the Apert syndrome.
It is also known that the clinical courses of some syndromes have associations with dysgerminoma, as is the case with Cowden's syndrome, ataxia telangiectasia syndrome,Swyer syndrome pure gonadal dysgenesis associated with the XY 46 karyotype, Apert syndrome an autosomal dominant disorder and Down Syndrome.
Gorlin et al. 1995 conducted a study on the clinical characteristics of the Apert Syndrome and reported that the most common manifestations besides craniosynostosis were mid- facial malformations, deviation of the nasal septum and others like hypertelorism, strabismus, low set asymmetrical ears as well as ogival palate with a deep median sulcus, soft palate fissure or bifid uvula and nasopharyngeal alterations that reduced dimensions.
In this context, the present study investigated resident knowledge and perceptions about the role of plastic surgeons in the context of hand surgery, since the surgeons focus on the comprehensive care of countless patients with congenital hand deformities,including reconstruction of complex symmetric acrocephalosyndactylia and patients with Apert syndrome, which has positively impacted the quality of life of these patients10,11.