نتایج جستجو برای: cornelia de lange syndrome

تعداد نتایج: 2119570  

2005
Trinaty Crosby Douglas M. Teti

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 ...

2008

Myles Burnyeat has argued that in De Anima II.5 Aristotle marks out a refined kind of alteration which is to be distinguished from ordinary alteration, change of quality as defined in Physics III.1-3. Aristotle’s aim, he says, is to make it clear that perception is an alteration of this refined sort and not an ordinary alteration. Thus, it both supports his own interpretation of Aristotle’s vie...

2009
Chris Oliver Jenny Sloneem Scott Hall Kate Arron Cornelia de Lange

Journal: :Ghana Medical Journal 2010

Journal: :Cases Journal 2008
Hakan Uzun Dursun Ali Senses Munevver Uluba Kenan Kocabay

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary w...

2016
Kobe C. Yuen Baoshan Xu Ian D. Krantz Jennifer L. Gerton

NIPBL, a cohesin loader, has been implicated in transcriptional control and genome organization. Mutations in NIPBL, cohesin, and its deacetylase HDAC8 result in Cornelia de Lange syndrome. We report activation of the RNA-sensing kinase PKR in human lymphoblastoid cell lines carrying NIPBL or HDAC8 mutations, but not SMC1A or SMC3 mutations. PKR activation can be triggered by unmodified RNAs. G...

1972
Diana Noshir Mehta Rupinder Bhatia

Cornelia de Lange is a genetic syndrome which affects between 1/10.000 and 1/60.000 neonates, but its genetic bases are still not clear. Its principal clinical characteristics are the delay in growth and development, hirsute, structural anomalies in the limbs and distinctive facial characteristic. Dental problems are frequent and include: ogival palate, micrognathia, dental malalignment, delaye...

2013
Masataka Takahashi Toshihiko Watanabe Hideaki Tanaka Waka Yamada Koji Yamada Yasushi Fuchimoto Shunsuke Nosaka Yutaka Kanamori

We report a case of cecal volvulus in an 11-year-old girl who had been diagnosed with Cornelia de Lange syndrome. She had undergone operative fundoplication several years earlier and was referred to our institute for treatment of intestinal obstruction. A severely dilated colon was detected on abdominal roentgenogram, and abdominal CT and colonic enema strongly suggested cecal volvulus. Emergen...

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