Literature DB >> 26833951

Cornelia de Lange and Ehlers-Danlos: comorbidity of two rare syndromes.

Cora Cravero1, Vincent Guinchat1, Stéphane Barete2, Angèle Consoli3.   

Abstract

We present a case of a young adult with both Cornelia de Lange syndrome and Ehlers-Danlos syndrome. The patient showed non-verbal autism, intellectual disability and severe/intractable self-harming behaviours that led to a life-threatening complication (ie, septicaemia). A significant reduction in the self-harming behaviours was attained in a multidisciplinary neurobehavioural inpatient unit after addressing all causes of somatic pains, managing pain using level II and III analgesics, stabilising the patient's mood, limiting the iatrogenic effects of multiple prescriptions and offering a specific psychoeducational approach. 2016 BMJ Publishing Group Ltd.

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Year:  2016        PMID: 26833951      PMCID: PMC4746515          DOI: 10.1136/bcr-2015-210925

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  23 in total

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Authors:  Vincent Guinchat; Cora Cravero; Lautaro Diaz; Didier Périsse; Jean Xavier; Claire Amiet; Isabelle Gourfinkel-An; Nicolas Bodeau; Lee Wachtel; David Cohen; Angèle Consoli
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7.  NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

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