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Cornelia de lange syndrome

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Discerning autism from (severe) intellectual disability in CorneliadeLangeSyndrome

react-text: 123 Self-injurious behavior (SIB) is a relatively common behavior in individuals with intellectual disabilities (ID). Severe SIB can be devastating and potentially life-threatening. There is increasing attention for somati...

Stars: 107 Updated: September 14th,2018

OESOPHAGEAL MOTILITY DISORDERS IN CORNELIADELANGESYNDROME ORIGINAL FEATURE OR OESOPHAGITIS RELATED ABNORMALITIES?

OESOPHAGEAL MOTILITY DISORDERS IN CORNELIADELANGESYNDROME ORIGINAL FEATURE OR OESOPHAGITIS RELATED ABNORMALITIES?doi:10.1097/00005176-199700002-00041M. SCAILLONM. H. DE LAETM. TOPPETS. CADRANELJournal of Pediatric Gastroenterology ...

Stars: 147 Updated: September 14th,2018

Molecular and cytogenetic studies in CorneliadeLangesyndrome

Molecular and cytogenetic studies in CorneliadeLangesyndrome on ResearchGate, the professional network for scientists.... Molecular and cytogenetic studies in CorneliadeLangesyndromeCheryl DeScipio Conference: 2nd National Scien...

Stars: 78 Updated: September 14th,2018

Successful Growth Hormone Therapy in CorneliadeLangeSyndrome

CorneliadeLangesyndrome (CdLS) is a both clinically and genetically heterogeneous syndrome. In its classical form, it is characterised by distinctive...

Stars: 78 Updated: September 14th,2018

Classification of the CorneliadeLangesyndrome. Report of 3 cases

The authors report a case of Kugelberg Welander syndrome associated with mutism in a child aged 5 yr. In connection with this case, they discuss the difficulties of histological diagnosis and the classification of this disease among t...

Stars: 83 Updated: September 14th,2018

i-gel: a new supraglottic device for effective resuscitation of a very low birthweight infant with CorneliadeLangesyndrome.

Laryngeal Mask Airway (LMA) has been indicated as an effective device for airway management when face-mask ventilation and intubation have both failed in infants weighing >2000 g or delivered ≥34 weeks of gestation. All previous s...

Stars: 160 Updated: September 14th,2018

Anaesthetic implications of CorneliadeLangesyndrome.

CorneliadeLangesyndrome is a congenital disease characterized basically by psychomotor retardation associated with a series of malformations (mainly ...

Stars: 68 Updated: September 14th,2018

[Chromosome abnormalities in a case of CorneliaDeLangesyndrome (typus degenerativus amstedolamensis)]

de Angelis P, Ventruto V.

Stars: 131 Updated: September 14th,2018

Microtia in CorneliadeLangesyndrome: a case from Democratic Republic of the Congo

Children with CorneliadeLangesyndrome frequently present to otolaryngology services with hearing problems. Airway problems have not previously been reported. We wish to describe our experience of the overall management in a series ...

Stars: 105 Updated: September 14th,2018

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