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De Lange Syndrome - Epidemiology
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Definition of 'De Lange Syndrome'

A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)

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Sunday, March 21, 2010

Self-injurious behaviour in Cornelia de Lange syndrome: 2. Association with environmental events.

29 Jun 2009 BACKGROUND: Self-injurious behaviour is commonly seen in Cornelia de Lange syndrome (CdLS). However, there has been limited research into the aetiology of self-injury in CdLS and whether environmental factors influence the behaviour. METHODS: We ... Read more...


Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology.

29 Jun 2009 BACKGROUND: Self-injurious behaviour is frequently identified as part of the behavioural phenotype of Cornelia de Lange syndrome (CdLS). We conducted a case-control study of the prevalence and phenomenology of self-injurious behaviour (SIB) in CdLS. ... Read more...


[Myopia in systemic disorders]

30 Dec 2008 Myopia is the most common refractive error Myopia has been well established as a multifactorial disease with both genetic and environmental etiology. A number of genetic loci have been linked with myopia. We have described the prevalence and the ... Read more...

 

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Technical information about 'De Lange Syndrome'

Definition: A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)

Descriptor UI: D003635

Alternative terms: De Lange Syndrome; Syndrome, De Lange; Typus Degenerativus Amstelodamensis; Amstelodamensis, Typus Degenerativus; Cornelia De Lange Syndrome; De Lange's Syndrome; Syndrome, De Lange's; Brachmann-De Lange Syndrome; Brachmann De Lange Syndrome; Syndrome, Brachmann-De Lange;

Related Mesh Headings: Mental Retardation;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; ultrastructure; urine; veterinary; ultrasonography; virology;

Tree Number: C10.597.606.643.210; C16.131.077.272; C16.131.260.210; C16.320.180.210;

History Note: 2000(1964)

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