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Erker C

Cornelia de Lange syndrome

Cornelia de Lange syndrome

Schlüsselwörter Cornelia de Lange syndrome; ICD 10: Q87.1; Synonyms: De Lange syndrome, Brachmann-de Lange syndrome, Typus degenerativus amstelodamensis
Keywords Cornelia de Lange syndrome; ICD 10: Q87.1; Synonyms: De Lange syndrome, Brachmann-de Lange syndrome, Typus degenerativus amstelodamensis
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Summary

Cornelia de Lange syndrome (CdLS) is a genetic disorder caused by mutations in the cohesin complex and its regulators with hypoplasia of the mesenchyme as the suggested main pathophysiology.

The majority of cases are sporadic. The clinical characteristics include growth retardation, gastrointestinal transport problems, hirsutism, limb abnormalities and facial abnormalities, such as brachycephaly, short neck, high-arched eye¬brows, short nose, low-set ears, wide nasal bridge, sometimes cleft palate, laryngeal anomalies and micrognathia [2]. The mental development is compromised and might be accompanied by aggressive, autistic or self-destructive tendencies [8]. Epilepsy and congenital cardiac defects are sometimes associated, as well as immunodeficiency. Anaesthetic management concentrates on airway management (which can be challenging) and on pre¬vention of aspiration, the leading cause of death in CdLS.

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