Intellectual disability-sparse hair-brachydactyly syndrome

Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review

Journal of Pediatric Genetics ◽

10.1055/s-0037-1603650 ◽

2017 ◽

Vol 06 (04) ◽

pp. 227-233 ◽

Cited By ~ 2

Author(s):

Irina Novikova ◽

Paushpala Sen ◽

Ann Manzardo ◽

Merlin Butler

Keyword(s):

Intellectual Disability ◽

Male Patient ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Clinical Report ◽

Intrauterine Growth ◽

Interstitial Duplication ◽

Craniofacial Features ◽

Sparse Hair ◽

Small Mouth

AbstractWe present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495–4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal craniofacial features, intellectual disability, aggression, and a heart murmur. All patients were found to have a psychomotor developmental delay and/or intellectual disability with the majority having microcephaly, intrauterine growth retardation, and hypotonia. Common craniofacial findings included a tall, prominent forehead, an elongated face, epicanthal folds, hypertelorism, prominent low-set ears, philtrum anomaly, and a small mouth. Other less common features included abnormal digits, sparse hair, and cardiac defects. Clinical features, chromosome duplication sizes, locations, and the number of genes will be summarized in a tabular form.

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Osteopenia-intellectual disability-sparse hair syndrome

10.32388/g995wm ◽

2020 ◽

Author(s):

Keyword(s):

Intellectual Disability ◽

Sparse Hair

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Nicolaides–Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion

Cardiology in the Young ◽

10.1017/s1047951121003826 ◽

2021 ◽

pp. 1-3

Author(s):

Ross Foley ◽

Sophie Duignan ◽

Linda McArdle ◽

David R. Betts ◽

Andrew Green ◽

...

Keyword(s):

Intellectual Disability ◽

Genetic Testing ◽

Hypertrophic Cardiomyopathy ◽

Short Stature ◽

Developmental Disorder ◽

Gene Deletion ◽

Hypertrophic Obstructive Cardiomyopathy ◽

Pathogenic Variants ◽

Novel Association ◽

Sparse Hair

Abstract Nicolaides–Baraitser syndrome is a rare, neuro-developmental disorder caused by heterozygous pathogenic variants in the SMARCA2 gene, involved with chromatin regulation. Cardinal features include intellectual disability, short stature, microcephaly, triangular facies, sparse hair, brachydactyly, prominent interphalangeal joints and seizures. Genetic testing demonstrated a loss within SMARCA2 at 9p24.3 inclusive of basepairs 2094861_2141830 (hg19) in our patient. This case highlights a child with Nicolaides–Baraiter syndrome, a SMARCA2 gene deletion and a novel association of hypertrophic obstructive cardiomyopathy.

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Normocentric biases taint cognitive neuroscience and intervention of autism

Behavioral and Brain Sciences ◽

10.1017/s0140525x18002297 ◽

2019 ◽

Vol 42 ◽

Cited By ~ 1

Author(s):

Laurent Mottron

Keyword(s):

Intellectual Disability ◽

Cognitive Neuroscience ◽

Social Motivation ◽

Repetitive Behaviors ◽

Restricted Interests ◽

Autistic People

Abstract Stepping away from a normocentric understanding of autism goes beyond questioning the supposed lack of social motivation of autistic people. It evokes subversion of the prevalence of intellectual disability even in non-verbal autism. It also challenges the perceived purposelessness of some restricted interests and repetitive behaviors, and instead interprets them as legitimate exploratory and learning-associated manifestations.

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