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...

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...

implications of Cornelia de Lange syndrome. Paediatr Anaesth 1998; 8: 159–161. 7 Lumb AB, Carli F. Respiratory arrest after a caudal injection of bupivacaine. Anaesthesia 1989; 44: 324–325. 8 Mizuno J, Ichiishi N, In-nami H et al. Anesthetic management in a patient with Cornelia de Lange syndrome. Masui 2004; 53: 921–924. 9 Papadimos TJ, Maro AP. Cornelia de Lange syndrome, hyperthermia and a d...

Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay. Gastrointestinal anomalies are common and an important cause of morbidity and mortality. We report on a newborn with a molecularly confirmed Cornelia de Lange syndrome who had an imperforate anus. This is the third report of...

BACKGROUND Cornelia de Lange syndrome is characterized by dysmorphic facial features, hirsutism, severe growth and developmental delay. Germline mutations in the NIPBL gene with an autosomal dominant pattern and in the SMC1A gene with an X-linked pattern have been identified in Cornelia de Lange syndrome. CASE PRESENTATION A two-month-old Iranian boy who showed multiple congenital anomalies w...

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 [...

BACKGROUND AND PURPOSE Cornelia de Lange syndrome is a rare developmental malformation syndrome with a high prevalence of hearing impairment. The purposes of this study were to describe the characteristic temporal bone CT findings in patients with Cornelia de Lange syndrome and to correlate audiometric data with radiologic findings in these patients. MATERIALS AND METHODS Ten children (6 girl...

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. We present here a case of newborn ma...