نتایج جستجو برای: cornelia de lange

تعداد نتایج: 1533736  

Journal: :Journal of child psychology and psychiatry, and allied disciplines 2012
Jo Moss Patricia Howlin Iliana Magiati Chris Oliver

BACKGROUND The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in Cornelia de Lange syndrome (CdLS). However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. In this study we examine the ASD profile in CdLS in comparison to a matched group of individuals with...

Journal: :Journal of Indian Academy of Oral Medicine and Radiology 2018

Journal: :American Journal of Medical Genetics Part A 2012

Journal: :Journal of intellectual disability research : JIDR 2018
L Bell C Oliver A Wittkowski J Moss D Hare

BACKGROUND Catatonia-like presentations in people with autism have been increasingly recognised within research and diagnostic guidelines. The recently developed Attenuated Behaviour Questionnaire has identified that attenuated behaviour [autistic catatonia] is very prevalent in people with autism spectrum disorders (ASDs) and associated with repetitive behaviour. In the current study, we inves...

Journal: :Journal of medical genetics 2004
G Borck R Redon D Sanlaville M Rio M Prieur S Lyonnet M Vekemans N P Carter A Munnich L Colleaux V Cormier-Daire

C ornelia de Lange syndrome (CdLS, also called Brachmann de Lange syndrome; OMIM 122470) is characterised by preand postnatal growth retardation, microcephaly, severe mental retardation with speech delay, feeding problems, major malformations including limb defects, and characteristic facial features. Facial dysmorphism includes arched eyebrows, synophrys, short nose with anteverted nares, long...

Journal: :BMC Pediatrics 2007
Mona Ellaithi David Gisselsson Therese Nilsson Atif Elagib Imad Fadl-Elmula Mashair Abdelgadir

BACKGROUND Brachmann de Lange syndrome (BDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. CASE PRESENTATION Here we present for the first time a case of BDLS from Sudan, a 7-month-old female infant, who was referred as a ...

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