Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study
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منابع مشابه
Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study
KBG syndrome is a neurodevelopmental disorder (NDD) caused by loss-of-function of the ANKRD11 gene. The core phenotype comprises developmental delay (DD)/ intellectual disability (ID) and several specific facial dysmorphisms. In addition, both ADHD- and ASD-related symptoms have been mentioned. For the correct understanding of these developmental and behavioral characteristics however, it is of...
متن کاملThe KBG syndrome: Case report
INTRODUCTION The KBG syndrome is a rare autosomal dominant condition, first described by Hermann et al. in 1975. Fundamental findings are: mild development delay, short stature, craniofacial dysmorphism and skeletal anomalies. CASE PRESENTATION A 32 years old woman, Caucasian race, weight 57 Kg, affected by KBG syndrome was sent to our clinics for preoperative anaesthesia evaluation. She was ...
متن کاملKBG syndrome
KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomalies (with ...
متن کاملKBG syndrome
CLINICAL DESCRIPTION KBG syndrome is characterized by macrodontia of upper central incisors, distinctive craniofacial features such as triangular face, prominent nasal bridge, thin upper lip and synophrys; skeletal findings including short stature, delayed bone age, and costovertebral anomalies; and developmental delay/intellectual disability sometimes associated with seizures and EEG abnormali...
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ژورنال
عنوان ژورنال: Frontiers in Behavioral Neuroscience
سال: 2017
ISSN: 1662-5153
DOI: 10.3389/fnbeh.2017.00248