Results 11 to 20 of about 60,147,798 (196)
Cornelia de lange syndrome [PDF]
Indian Journal of Human Genetics, 2008 Cornelia de Lange syndrome (CDLS) is a rare multiple congenital anomaly syndrome characterized by a distinctive facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, and hirsutism.Here for the first time a case of CDLS from Iran, a 15-week-old male infant who was refereed as a case of multiple ...
Tayebi, Naeimeh
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Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation [PDF]
Case Reports in Genetics, 2012 Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay.
Rose H. Mende +3 more
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Journal of Indian Society of Pedodontics and Preventive Dentistry, 2005 Cornelia De Lange syndrome is a relatively uncommon, multiple congenital anomaly / mental retardation disorder of unknown etiology. Its incidence has been reported to vary from 1 : 30,000 to 1 : 50,000 of live births, without any known racial ...
Gupta D, Goyal S
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Chromatinopathies: A focus on Cornelia de Lange syndrome
Clinical Genetics, 2019 Abstract In recent years, many genes have been associated with chromatinopathies classified as “Cornelia de Lange Syndrome‐like.” It is known that the phenotype of these patients becomes less recognizable, overlapping to features characteristic of other syndromes caused by genetic variants affecting different regulators of chromatin ...
Avagliano, Laura +9 more
openaire +4 more sources
Síndrome de Cornelia de Lange Cornelia de Lange syndrome: a case report
Arquivos de Neuro-Psiquiatria, 1972 É relatado um caso do síndrome de Cornelia de Lange em menina de 9 anos de idade, caracterizado por deficiência mental, hirsutismo, synophris, anormalidades esqueléticas e dermatoglíficas.
Lineu Cesar Werneck, F. A. Marçallo
doaj +1 more source
Executive functioning in Cornelia de Lange Syndrome [PDF]
, 2010 Cornelia de Lange Syndrome (CdLS) is a genetic disorder caused by mutations to Chromosomes 5, 10 or X. In addition to mild to profound intellectual disability and the distinctive physical phenotype, emerging evidence has suggested a number of age-related
Reid, Donna
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Cornelia de-Lange syndrome - A case report
Journal of Indian Academy of Oral Medicine and Radiology, 2018 Cornelia de-Lange syndrome (CdLS) is a rare multisystem developmental disorder characterized by psychomotor retardation and delayed growth associated with a series of malformations, including facial dysmorphia, upper-extremity malformations, hirsutism ...
Charvi Chawla +3 more
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Cornelia De Lange Syndrome: A Case Report [PDF]
Journal of Tehran University Heart Center, 2009 Cornelia de Lange syndrome (CdLS) is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological ...
Mohammad Yousef Aarabi Moghaddam +2 more
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Mood and sociability in Cornelia de Lange syndrome [PDF]
, 2010 Background: Recent literature on the behavioural phenotype of Cornelia de Lange syndrome suggests that the trajectory of a number of behaviours may be atypical in the syndrome, including mood and sociability however there is a lack of quantitative ...
Nelson, Lisa Kim
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