نتایج جستجو برای: cornelia de lange
تعداد نتایج: 1533736 فیلتر نتایج به سال:
BACKGROUND There has been limited empirical research into the environmental causes of self-injury in Cornelia de Lange syndrome. The present study examined the variability of self-injurious behaviour in Cornelia de Lange syndrome across environmental setting events. Additionally, the association between setting events and more specific environmental events was examined. METHOD A descriptive a...
A male infant, the first-born of twins, with features of Cornealia de Lange syndrome is described. His normal twin was discordnat for 3 of the 14 blood loci tested. Chromosomes from the affected infant appeared normal. Though the aetiological basis for the Cornealia de Lange syndrome remains obscure, most authorities accept genetic rather than environmental causation. The present findings of di...
A 3-year-old girl with facial dysmorphic features suggestive of Cornelia de Lange syndrome was seen in the ophthalmology unit for a right leukocoria. The leukocoria was found to be caused by a large retinoblastoma and the right eye was enucleated. Chromosomal analysis revealed partial chromosome 13q deletion involving band 14 which is associated with a high risk of retinoblastoma. This case sho...
مقدمه: cdls(cornelia de lange syndrome)، سندرم نادری است که با آنومالی های مادرزادی متعدد، عقب ماندگی ذهنی، نمای خاص چهره، تاخیر رشد و نمو، آنومالی های اسکلتی، هیرسوتیسم و درگیری چشمی مشخص می گردد. تشخیص بیماری، کلینیکی است. معرفی بیمار: در این مقاله یک شیرخوار مبتلا به این سندرم معرفی می شود. نتیجه گیری: افزایش آگاهی از این سندرم منجر به تشخیص زودرس و کاهش موربیدیتی می گردد.
Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation. Recently, NIPBL somatic mosaicism has been highlighted through buccal cell DNA study in some patients with a negative molecular analysis on leukocyte DNA. Here, we present a series of 38 patients with a Cornelia de Lange syndrome related to a heterozygous NIPBL mutation id...
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Assessing parental beliefs in early childhood is significant because of its ability to properly understand parenting as an adaptational process along with child development. Sigel and McGillicuddy-De Lisi (2002) stated, “What parents believe about parenting is related to their own parenting and to virtually every aspect of children’s developmental accomplishments.” The purpose of this study is ...
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