2008
DOI: 10.1590/s0103-05822008000300015
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Abstract: OBJETIVO: Relatar dois pacientes, um acometido por trissomia do cromossomo 13 em mosaico e outro por trissomia do cromossomo 18, ambos com apresentações clínicas não usuais. DESCRIÇÃO DO CASO: Paciente do sexo feminino de dois meses de idade, que apresentava deficiência de crescimento, dismorfias menores de face e de membros, paresia facial unilateral, cardiopatia congênita, hipotonia e evolução com o surgimento de manchas hipocrômicas e atraso do desenvolvimento neuropsicomotor. O segundo caso é de um pacient… Show more

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Cited by 8 publications
(7 citation statements)
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References 4 publications
(4 reference statements)
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“…These may be multiple and were observed in 27% of our patients (in the literature they have been described in up to 56% of cases [Taylor, ]). Spots following the lines of Blaschko are indicative of the possible presence of mosaicism and are uncommon in patients with PS [Zen et al, ]. These spots were observed in only one individual of our sample, which was described in detail by Zen et al [].…”
Section: Discussionsupporting
confidence: 56%
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“…These may be multiple and were observed in 27% of our patients (in the literature they have been described in up to 56% of cases [Taylor, ]). Spots following the lines of Blaschko are indicative of the possible presence of mosaicism and are uncommon in patients with PS [Zen et al, ]. These spots were observed in only one individual of our sample, which was described in detail by Zen et al [].…”
Section: Discussionsupporting
confidence: 56%
“…Spots following the lines of Blaschko are indicative of the possible presence of mosaicism and are uncommon in patients with PS [Zen et al, ]. These spots were observed in only one individual of our sample, which was described in detail by Zen et al []. Neurological findings commonly reported among individuals with PS include hypertonia and hypotonia (16–100% of cases) [Taylor, ; Hodes et al, ; Sugayama et al, ].…”
Section: Discussionsupporting
confidence: 51%
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“…However, despite the great advances made over the decades, an inadequacy of the ultrasound diagnosis of fetal defects still occurs. For example, the frequency of detection of congenital heart defects appears to be well below than that recommended in the literature, ranging from 8% to 19% [Oliveira et al, 1997;Bacaltchuk et al, 2001;Rosa et al, 2008]. In our sample, about one-third of patients who undergoing to obstetrical ultrasound (35%) had an exam considered normal, and there were no reports of prenatal identification of patients.…”
Section: Discussioncontrasting
confidence: 51%
“…This can be evidenced also by the finding that patients born in the hospital had a significantly lower survival, perhaps because they included more severe cases of the disease. Some patients may also present unusual clinical manifestations, often severe [Zen et al, 2008], and thus be underdiagnosed and not referenced. Interestingly, the only patient still alive in our sample exhibits mosaicism, and this has already been suggested in combination with a longer survival in the literature [Magenis et al, 1968].…”
Section: Discussionmentioning
confidence: 99%