Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped-B-like protein (NIPBL) and SMC1A. Parental studies should be pursued if there is a history of learning disabilities and/or dysmorp...

C ornelia de Lange syndrome (CdLS, also called Brachmann de Lange syndrome; OMIM 122470) is characterised by preand postnatal growth retardation, microcephaly, severe mental retardation with speech delay, feeding problems, major malformations including limb defects, and characteristic facial features. Facial dysmorphism includes arched eyebrows, synophrys, short nose with anteverted nares, long...

BACKGROUND Brachmann de Lange syndrome (BDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. CASE PRESENTATION Here we present for the first time a case of BDLS from Sudan, a 7-month-old female infant, who was referred as a ...

Dear Editor, I read with great interest the recent article by Saif et al1 in a recent issue of your esteemed journal. The article is highly thought provoking. Interestingly, the past few years have seen the identifi cation of a number of pathological conditions resulting because of mutations in the KCNQ1 gene. For instance, increased disease severity is seen in patients with Long QT syndrome (L...

BACKGROUND The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in Cornelia de Lange syndrome (CdLS). However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. In this study we examine the ASD profile in CdLS in comparison to a matched group of individuals with...

Cornelia De Lange syndrome is a rare genetically heterogeneous and sporadic syndrome, with an estimated prevalence of 1 in 10,000 to 30,000. The disorder may present many complications during anesthesia due to cardiac, gastrointestinal and airway anomalies. We report a case of an ex premature toddler presenting for repair of a cleft palate. Postoperatively she had respiratory distress, successf...

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...

Consumul de medicamente în cursul sarcinii nu este deloc neglijabil. Între 20-40% dintre femeile gravide necesit\ pe perioada celor nou\ luni de sarcin\ o terapie medicamentoas\, în cursul c\reia terapeutul trebuie s\ ]in\ seama de doi pacien]i: mama [i f\tul. Departe de a juca rolul unei bariere, placenta se las\ u[or traversat\ de medicamente: substan]a medicamentoas\ administrat\ mamei ajung...