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      Syndrome d'Apert chez un congolais de 60 ans: à propos d'une observation Translated title: Apert syndrome in a 60-year old Congolese: about one observation

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          Abstract

          Le syndrome d'Apert est une rare acrocéphalosyndactylie caractérisée par une dysmorphie crânio-faciale avec une crâniosténose, une syndactylie aux mains et aux pieds et d'autres malformations cérébrales. La coexistence de plusieurs malformations avec un important lot de préjudices esthétiques constitue la gravité de ce syndrome. Une prise en charge précoce et multidisciplinaire s'avère important. Les auteurs rapportent une observation rare d'un syndrome d'apert chez un patient congolais âgé de 60 ans qui n'a jamais bénéficié d'une prise en charge. Ainsi, cette observation décrit les aspects cliniques et évolutifs de cette affection.

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          Most cited references 23

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          Exclusive paternal origin of new mutations in Apert syndrome.

          Apert syndrome results from one or other of two specific nucleotide substitutions, both C-->G transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene. The frequency of new mutations, estimated as 1 per 65,000 live births, implies germline transversion rates at these two positions are currently the highest known in the human genome. Using a novel application of the amplification refractory mutation system (ARMS), we have determined the parental origin of the new mutation in 57 Apert families: in every case, the mutation arose from the father. This identifies the biological basis of the paternal age effect for new mutations previously suggested for this disorder.
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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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              Visceral anomalies in the Apert syndrome.

              We report on visceral anomalies found in 136 patients with Apert syndrome. Autopsies were only performed on 12 of these cases. Thus, the percentage of anomalies found in our patients should be considered a minimum estimate because of the possibility of clinically silent visceral anomalies, minor internal anomalies, and anatomic variations. Cardiovascular and genitourinary anomalies were found most commonly, occurring in 10% and 9.6%, respectively. As expected, complex and multiple cardiac anomalies were frequently associated with early death. Among genitourinary anomalies, hydronephrosis (3%) and cryptorchidism (4.5%, n = 66 males) occurred most commonly. In contrast, anomalies of the respiratory system (1.5%) and gastrointestinal anomalies (1.5%) occurred with lower frequency. The finding of a solid cartilaginous trachea is particularly important because no case was diagnosed during life but rather, only at autopsy. Because cardiovascular and genitourinary anomalies occur with significant frequency, they should be considered in the workup of all Apert newborn infants. We also recommend MRI study of the trachea in any infant with signs and symptoms of lower respiratory compromise.
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                Author and article information

                Journal
                Pan Afr Med J
                Pan Afr Med J
                PAMJ
                The Pan African Medical Journal
                The African Field Epidemiology Network
                1937-8688
                30 April 2015
                2015
                : 20
                Affiliations
                [1 ]Université de Kamina, Faculté de Médecine, Département de Santé Publique, Unité de toxicologie, République Démocratique du Congo
                [2 ]Université de Lubumbashi, Faculté de Médecine, Département de Santé Publique, Unité de toxicologie, République Démocratique du Congo
                [3 ]Zone de Santé de Dilolo, hopital General de Dilole, République Démocratique du Congo
                [4 ]Zone de Santé de Kolwezi, Hôpital General de Kolwezi, Kolwezi, République Démocratique du Congo
                [5 ]Université de Lubumbashi, Faculté de Médecine, Département de Pédiatrie, République Démocratique du Congo
                Author notes
                [& ]Corresponding author: Léon Kabamba Ngombe, Université de Kamina, Faculté de Médecine, Unité de Toxicologie, République Démocratique du Congo
                Article
                PAMJ-20-433
                10.11604/pamj.2015.20.433.6742
                4537887
                © Léon Kabamba Ngombe et al.

                The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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