Cornelia de Lange syndrome is a rare congenital disorder marked by malformations of many different body parts, including the face, head, heart, and intestines. Most cases are caused by mutations that reduce levels of the Nipped-B-like (NIPBL) protein, whose best known role is to help ensure that chromosomes separate properly during cell division through its interactions with a protein complex c...

Prenatal diagnosis of Cornelia de Lange syndrome (CDLs) is difficult due to non-specific ultrasound and biochemical findings, normal karyotype, and negative family history. Previous studies suggest that low first and second trimester levels of pregnancy associated plasma protein-A are an indicator for this genetically heterogeneous condition, low levels of this protein can be non-specific. Here...

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is characterized by specific facial, skeletal, and behavioral features associated with variable degrees of intellectual disabilities. Sleep disturbances have been reported in patients with CdLS including insomnia, sleep-disordered breathing, intrinsic sleep disorders, and circadian rhythm disorders. The prevalence of sleep-relate...

Cornelia de Lange syndrome (typus degenerativus amstelodamensis, CdLS, Brachmann syndrome) is a complex, congenital, multi-gene anomaly characterized by mental retardation. Its features include growth inhibition, hirsutism, structural anomalies of the limbs and abnormal development of osseous structures of the face. Independent of the phenotype of the disease, 85% of patients are assumed to hav...

Le présent article vise à montrer qu’il n’existe pas d’espace Y dont la cohomologie à coefficients F2 soit la sous-algèbre des invariants de la cohomologie du 2-groupe abélien élémentaire (Z/2) pour l’action canonique du groupe de ses automorphismes Aut((Z/2)) 1 , lorsque n est strictement supérieur à 4. De tels espaces étaient connus pour n = 1, 2, 3; un récent article de Dwyer-Wilkerson en co...

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Congenital heart defects (CHDs) affect 2%-3% of newborns and remain challenging clinically. There is an ongoing project to elucidate the causes of CHDs, focusing primarily on genetics as dictated by the epidemiology. In a paper published in this issue, Santos and colleagues describe studies of Cornelia de Lange syndrome-associated secundum atrial septal defects (ASDs) caused by NIPBL mutations,...