Cornelia de lange syndrome: A review

Elizabeth A.M. Frost

Cornelia de lange syndrome: A review

Icahn School of Medicine at Mount Sinai

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Abstract

Cornelia de Lange syndrome (CdLS), also known as Bushy syndrome, Amsterdam dwarfism and Brachmann- de Lange syndrome is a genetic multi system disorder, usually caused by spontaneous mutation. Although present from birth, it may not always be immediately diagnosed. The estimated incidence is about 1:10,000-30,000 births. Both sexes are affected. Mortality is high early in life and neurosensory, craniofacial, musculoskeletal, cardiac and gastrointestinal abnormalities are all apparent. There is no known cure and treatment is supportive, requiring a team support system.

Original language	English
Title of host publication	Advances in Genetics Research
Publisher	Nova Science Publishers, Inc.
Pages	131-150
Number of pages	20
Volume	18
ISBN (Electronic)	9781536132656
ISBN (Print)	9781536132649
State	Published - 1 Jan 2018

Keywords

Cornelia de lange syndrome
Dwarfism
Genetic mutation
Rare disorders
Respiratory failure

Cite this

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abstract = "Cornelia de Lange syndrome (CdLS), also known as Bushy syndrome, Amsterdam dwarfism and Brachmann- de Lange syndrome is a genetic multi system disorder, usually caused by spontaneous mutation. Although present from birth, it may not always be immediately diagnosed. The estimated incidence is about 1:10,000-30,000 births. Both sexes are affected. Mortality is high early in life and neurosensory, craniofacial, musculoskeletal, cardiac and gastrointestinal abnormalities are all apparent. There is no known cure and treatment is supportive, requiring a team support system.",

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AB - Cornelia de Lange syndrome (CdLS), also known as Bushy syndrome, Amsterdam dwarfism and Brachmann- de Lange syndrome is a genetic multi system disorder, usually caused by spontaneous mutation. Although present from birth, it may not always be immediately diagnosed. The estimated incidence is about 1:10,000-30,000 births. Both sexes are affected. Mortality is high early in life and neurosensory, craniofacial, musculoskeletal, cardiac and gastrointestinal abnormalities are all apparent. There is no known cure and treatment is supportive, requiring a team support system.

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KW - Dwarfism

KW - Genetic mutation

KW - Rare disorders

KW - Respiratory failure

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VL - 18

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EP - 150

BT - Advances in Genetics Research

PB - Nova Science Publishers, Inc.

ER -

Cornelia de lange syndrome: A review

Abstract

Keywords

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