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Computed tomography assessment of Apert syndrome Translated title: Avaliação da síndrome de Apert por meio da tomografia computadorizada

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      Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, hypertelorism, and symmetric syndactyly of the hands and feet. The aim of this study is to assess the clinical and computed tomography imaging patterns of non-operated patients with Apert syndrome, correlating the bone abnormalities of the cranium, face and the skull base. The study population consisted of 5 patients with Apert syndrome. As part of the craniofacial assessment of the imaging center's routine, all patients underwent clinical evaluation and CT (computed tomograph) exam. Three-dimensional images were generated from helical CT scans, using an independent workstation, to evaluate the craniofacial abnormalities of the syndrome. Clinical exam determined that syndactyly of the hands and feet, pseudocleft in the midline palate and midface hypoplasia were features observed in all of the Apert patients. 3D-CT showed that some abnormalities such as bilateral coronal synostosis, calvarial midline defect and reduction in the antero-posterior dimension of the anterior, medial and posterior cranial fossae were present in all cases. In conclusion, the correlation of clinical and CT imaging findings can be useful to assess the main features observed in Apert patients, improving the criteria for examining the patient and diagnosing this condition, and contributing to the therapeutic planning and surgical follow-up.

      Translated abstract

      A síndrome de Apert, também denominada acrocefalossindactilia tipo I, é uma disostose craniofacial de caráter hereditário autossômico dominante. Caracteriza-se por distúrbio severo de desenvolvimento na região craniofacial, incluindo sinostose bilateral da sutura coronal, associada a hipoplasia maxilar, exoftalmia, hipertelorismo e sindactilia simétrica de mãos e pés. O presente trabalho tem por objetivo o estudo de pacientes portadores da síndrome de Apert, não-operados, correlacionando os achados clínicos com os obtidos por meio da tomografia computadorizada (TC). Foram analisados 5 pacientes, sendo todos submetidos ao exame clínico e à tomografia computadorizada. Reconstruções tridimensionais (3D-TC) foram obtidas a partir de um tomógrafo helicoidal, utilizando uma estação de trabalho independente, para avaliação das alterações craniofaciais provocadas pela síndrome. A análise clínica determinou que sindactilia de mãos e pés, pseudofenda na linha média do palato e hipoplasia da maxila são achados observados em todos os pacientes. A 3D-TC mostrou que algumas alterações como sinostose bilateral das suturas coronais, defeito na linha média da calvária e redução na dimensão ântero-posterior da fossa craniana anterior, média e posterior estavam presentes em todos os casos. A combinação e correlação entre os achados clínicos e os observados na 3D-TC pode ser útil na avaliação das alterações observadas na síndrome de Apert, possibilitando melhora no estudo do paciente e promovendo informações importantes no diagnóstico, planejamento terapêutico e acompanhamento cirúrgico.

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      Most cited references 19

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      The central nervous system in the Apert syndrome.

      In this paper, we present available central nervous system data from our series of patients with the Apert syndrome. Combining our own data with that available in the literature, 30 patients had malformations of the corpus callosum, the limbic structures, or both. Other frequent findings included megalencephaly (7 cases), gyral abnormalities (8 cases), encephalocele (4 cases), pyramidal tract abnormalities (2 cases), hypoplasia of cerebral white matter (4 cases), and heterotopic gray matter (2 cases). Progressive hydrocephalus seems to be uncommon and has frequently been confused with nonprogressive ventriculomegaly in the past. Psychometric evaluations, neurological findings, and neuropathologic reports from the literature are critically reviewed. It is clear that a significant number of patients with the Apert syndrome are mentally retarded. It is suggested that malformations of the central nervous system may be responsible for most cases.
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        Birth prevalence study of the Apert syndrome.

        Estimates of the Apert syndrome birth prevalence and the mutation rate are reported for Washington State, Nebraska, Denmark, Italy, Spain, Atlanta, and Northern California. Data were pooled to increase the number of Apert births (n = 57) and produce a more stable birth prevalence estimate. Birth prevalence of the Apert syndrome was calculated to be approximately 15.5/1,000,000 births, which is twice the rate determined in earlier studies. The major reason appears to be incomplete ascertainment in the earlier studies. The similarity of the point estimates and the narrow bounds of the confidence limits in the present study suggest that the birth prevalence of the Apert syndrome over different populations is fairly uniform. The mutation rate was calculated to be 7.8 x 10(-6) per gene per generation. Apert syndrome accounts for about 4.5% of all cases of craniosynostosis. The mortality rate appears to be increased compared to that experienced in the general population; however, further study of the problem is necessary.
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          Cranial size and configuration in the Apert syndrome.

          The cranial size and configuration of the Apert cranium are unique. True megalencephaly is characteristic, postmortem brain weights being dramatically increased above the 95th centile regardless of age. In addition, all Apert newborn infants have coronal synostosis with a widely patent midline calvarial defect. Thus, the head is unusually heavy and the cranium is disproportionately high. These characteristics, which are present at birth, result in a mean newborn length and weight above the 50th centile. The widely patent midline calvarial defect, allowing the brain to expand anteriorly into the metopic area, and some increase in the head breadth permit the mean head circumference at birth to normalize slightly above the 50th centile. In our series of surgically unoperated patients of different ages from the 1960s and earlier, most head circumference values fall below the mean but within or at -2 SD. Thus, the natural history of the unoperated growing cranium, beginning slightly above the 50th centile at birth, consists of a slowing of head circumference expansion to a greater degree than normal. Studies of intracranial volume show that mean adult male and female volumes far exceed normal adult values. Cranial shape is distinctive with head breadth either being normal or slightly increased, head length being significantly shortened, and head height being dramatically increased. The mean cephalic index is hyperbrachycephalic. Sexual dimorphism is found, with higher values in females than in males; the cause is unknown, although the contributing component appears to be head breadth. The disproportionately high cranium in the Apert syndrome is dramatically shown by the great differences from normal in the head height/head breadth index and in the head height/head length index. Finally, the crania of Apert and Crouzon syndromes are compared in terms of size, shape, and volume. For Crouzon syndrome, the mean adult cephalic index is normocephalic and the mean adult intracranial volume is smaller than normal.

            Author and article information

            [1 ] Universidade de São Paulo Brazil
            [2 ] Universidade de São Paulo Brazil
            Role: ND
            Role: ND
            Brazilian Oral Research
            Braz. oral res.
            Sociedade Brasileira de Pesquisa Odontológica - SBPqO (São Paulo )
            March 2004
            : 18
            : 1
            : 35-39


            Product Information: SciELO Brazil


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