Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome
نویسندگان
چکیده
منابع مشابه
Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.
Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by prenatal and postnatal growth retardation, developmental delay, distinctive facial dysmorphism, limb malformations, and multiple organ defects. Mutations in the NIPBL gene have been discovered recently as a major etiology for this syndrome, and were detected in 27-56% of patients. Two groups have fou...
متن کاملCornelia De Lange Syndrome and Cochlear Implantation
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...
متن کاملOphthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.
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...
متن کاملBehavioural phenotype of Cornelia de Lange syndrome.
A postal questionnaire was used to study 49 individuals with Cornelia de Lange syndrome (including both the classical and the mild forms) to ascertain behavioural phenotype. Ages ranged from early childhood to adulthood (mean age, 10.2 years; SD, 7.8) and the degree of mental retardation from borderline (10%), through mild (8%), moderate (18%), and severe (20%) to profound (43%). A wide variety...
متن کاملCornelia de Lange syndrome.
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...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2013
ISSN: 1059-7794
DOI: 10.1002/humu.22430