Characteristics of autism spectrum disorder in Cornelia de Lange syndrome.

An eighteen month-old infant with Cornelia de Lange syndrome: a case report

Cornelia de Lange syndrome (CdLS) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error. In classical form of the syndrome there is a recognizable facial appearance at birth although in children with mild disease this may be less obvious at birth but become more noticeable over the first three years of life. In t...

Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes.

Autism spectrum disorder characteristics have not been evaluated in Cornelia de Lange and Cri du Chat syndromes using robust assessments. The Autism Diagnostic Observation Schedule and Social Communication Questionnaire were administered to 34 participants with Cornelia de Lange syndrome and a comparison group of 23 participants with Cri du Chat syndrome (M ages 12.4 [SD = 3.8] and 10.3 years [...

Characteristics of Autism Spectrum Disorder in Cornelia de Lange Syndrome

Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome

Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of C...

ASD in Cornelia de Lange Syndrome

Background: The prevalence of Autism Spectrum Disorder (ASD) symptomatology is comparatively

سندرم Cornelia de Lange و معرفی یک مورد شیرخوار مبتلا

Cornelia De Lange is a rare congenital syndrome with multiple anomalies including Facial dysmorphism, hirsutism, height, weight and head circumflex retardations, cardiac defects, gastrointestinal and renal defects and extremity anomaly. Prevalence of this syndrome is 1 to 30000 or 1 to 50000. The diagnosis of this syndrome is based on clinical evidence. Genetic foundation is known to have two...