A family is reported in which several members have the Cornelia de Lange syndrome and other members show facial dysmorphism and other features reminiscent of this syndrome. The segregation pattern is consistent with the view that the dysmorphic features (variable) are the manifestation of a single gene in heterozygous form. Chromosome abnormality was not found.

Machado de Assis's own writings about his epilepsy are here given. They come from his correspondence with his friend Mario de Alencar during the last 8 months of Machado de Assis's life. These are the only places where Machado de Assis dealt clearly with his epilepsy during his entire life.

OBJECTIVE To evaluate individuals with Cornelia de Lange syndrome previously screened for mutations in the NIPBL gene for genotype-phenotype correlations with regard to severity of ophthalmologic findings. METHODS Fifty-four patients with Cornelia de Lange syndrome (26 mutation positive and 28 mutation negative) with varying extent and severity of ophthalmologic findings participated in the s...

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...

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...

1 1 1 Luiz Gustavo de Lima Vaz , Márcia Regina Fagundes Klen , Márcia Teresinha Veit , Edson Antonio da 1 1 2 Silva , Tatiany Aparecida Barbiero , Rosângela Bergamasco Universidade Estadual do Oeste do Paraná (UNIOESTE) Centro de Engenharias e Ciências Exatas Engenharia Química Toledo PR Universidade Estadual de Maringá (UEM) – Departamento de Engenharia Química – Maringá PR luizgustavovaz@gmai...