Introduction: Literature regarding the different degrees of hearing loss in patients with Cornelia de Lange syndrome (CDLS) reports that half of the affected patients exhibit severe to profound sensorineural hearing loss. We present the first pre-school child with CDLS who underwent cochlear implantation for congenital profound sensorineural hearing loss.   Case Report: A 3-year-old boy with CD...

Cornelia de Lange syndrome (CdLS) is a multisystem malformation syndrome. There is wide clinical variability in this disorder. This disorder is relatively uncommon and characterised by series of malformations which includes skeletal, craniofacial, gastrointestinal and cardiac malformations. The main clinical feature includes growth retardation, limb abnormalities, mental retardation, developmen...

Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We actually want to present the case of...

An eight-year-old boy with Cornelia de Lange syndrome underwent left inguinal hernioplasty and orchiopexy under general anesthesia. The patient with Cornelia de Lange syndrome had severe primordial growth failure with muscle-skeletal system such as cleft palate, micrognathia, and micromelia of the extremities and mental retardation as well as characteristic faces such as deep supercilia, etc. W...

PURPOSE Cornelia de Lange syndrome is a rare disease showing characteristic facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, hirsutism and various ophthalmologic problems. METHODS We experienced a case of an 18-year-old female with Cornelia de Lange syndrome showing superficial keratitis with entropion, ptosis, high myopia, lacrimal cut...

Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain alterations. Wnt pathway is known to play a fundamental role in central nervous system development and it has been shown that Wnt pathway is d...

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...

SummaryThese two case reports illustrate the importance of doing a thorough dysmorphology examination for all so called "Multiple congenital anomalies" children and attempting to fit them into a recognized syndrome. Well over 2000 dysmorphic syndromes are now recognized and diagnosis of these children can be extremely difficult.

BACKGROUND There has been limited empirical research into the environmental causes of self-injury in Cornelia de Lange syndrome. The present study examined the variability of self-injurious behaviour in Cornelia de Lange syndrome across environmental setting events. Additionally, the association between setting events and more specific environmental events was examined. METHOD A descriptive a...

A male infant, the first-born of twins, with features of Cornealia de Lange syndrome is described. His normal twin was discordnat for 3 of the 14 blood loci tested. Chromosomes from the affected infant appeared normal. Though the aetiological basis for the Cornealia de Lange syndrome remains obscure, most authorities accept genetic rather than environmental causation. The present findings of di...