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Dermatologic features of Smith-Magenis syndrome.
Guérin-Moreau M, et al. Pediatr Dermatol 2015. PMID 25684097
Smith-Magenis syndrome (SMS) is characterized by distinctive facial and skeletal features, developmental delay, cognitive impairment, and behavioral abnormalities, including self-injurious behaviors. ...It remains to be determined whether the combination of the two kinds of signs could contribute to early diagnosis of the syndrome....
Smith-Magenis syndrome (SMS) is characterized by distinctive facial and skeletal features, developmental delay, cogniti
Smith-Magenis Syndrome: Molecular Basis of a Genetic-Driven Melatonin Circadian Secretion Disorder.
Poisson A, et al. Int J Mol Sci 2019 - Review. PMID 31330985 Free PMC article.
Smith-Magenis syndrome (SMS), linked to Retinoic Acid Induced (RAI1) haploinsufficiency, is a unique model of the inversion of circadian melatonin secretion. ...
Smith-Magenis syndrome (SMS), linked to Retinoic Acid Induced (RAI1) haploinsufficiency, is a unique model of the inver
An Update on Common Chromosome Microdeletion and Microduplication Syndromes
Goldenberg P. Pediatr Ann 2018 - Review. PMID 29750287
Chromosomal microarray analysis will detect all these conditions with a single screening test, allowing for the appropriate diagnosis and management of these patients. ...
Chromosomal microarray analysis will detect all these conditions with a single screening test, allowing for the appropriate diagnosis
Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience.
Chen L, et al. Dev Period Med 2015 - Review. PMID 26384114
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by sleep disturbance, multiple developmental anomalies, psychiatric behavior, and obesity. ...The cross-talk between circadian rhythm, development, metabolism and behaviors affect the multiple phenotypic outcomes in Smith-Magenis syndrome. ...
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by sleep disturbance, multiple developmental a
[Smith-Magenis syndrome is an association of behavioral and sleep/wake circadian rhythm disorders].
Poisson A, et al. Arch Pediatr 2015. PMID 25934608 French.
Smith-Magenis syndrome (SMS) is a genetic disorder characterized by the association of facial dysmorphism, oral speech delay, as well as behavioral and sleep/wake circadian rhythm disorders. ...This whole appropriate medical management is underpinned by the diagnosis of SMS. Diagnostic strategies include fluorescent in situ hybridization (FISH) or array comparative genomic hybridization (array CGH) when a microdeletion is sought and Sanger sequencing when a point mutation is suspected. ...
Smith-Magenis syndrome (SMS) is a genetic disorder characterized by the association of facial dysmorphism, oral speech
Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome.
Nag HE, et al. Mol Autism 2018. PMID 29321841 Free PMC article.
The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).Lately, the interest in studying ASD in genetic disorders has increased, and research has shown a higher prevalence of ASD in some genetic disorders than in the general population.Smith-Magenis syndrome (SMS) is a rare and complex genetic syndrome caused by an interstitial deletion of chromosome 17p11.2 or a mutation on the retinoic acid induced 1 gene. ...
The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).Lately, the interest in studying ASD i …
Prenatal diagnosis of Smith-Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects.
Lei TY, et al. Taiwan J Obstet Gynecol 2016. PMID 28040141 Free article.
OBJECTIVE: Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by an interstitial deletion involving chromosome 17p11.2 containing the retinoic acid-induced 1 (RAI1) gene or due to mutation of RAI1. Few cases have been reported in the medical literature regarding prenatal diagnosis of SMS. We report on the prenatal diagnosis of SMS in two fetuses with increased nuchal translucency (NT), mild lateral ventriculomegaly, and congenital heart defects by whole-genome and high-resolution chromosome microarray analysis (CMA). ...
OBJECTIVE: Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by …
Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.
Yeetong P, et al. Am J Med Genet A 2016. Among authors: Smith AC. PMID 27311559
We report a 25-year-old female confirmed to have Smith-Magenis syndrome (SMS) due to a de novo RAI1 variant. Her past history is significant for developmental and intellectual delay, early and escalating maladaptive behaviors, and features consistent with significant sleep disturbance, the etiology of which was not confirmed for over two decades. ...The diagnosis was particularly relevant to the legal discussion and determination of her competence to stand trial. As other similar cases may exist, this report will help to increase awareness of the possibility of a very late diagnosis of SMS, with the need for re-evaluation of individuals suspected to have SMS who were initially evaluated prior to the identification of the RAI1 gene. © 2016 Wiley Periodicals, Inc....
We report a 25-year-old female confirmed to have Smith-Magenis syndrome (SMS) due to a de novo RAI1 variant. Her past h …
Differences in Social Motivation in Children with Smith-Magenis Syndrome and Down Syndrome.
Wilde L, et al. J Autism Dev Disord 2016. PMID 26983920
Smith-Magenis syndrome (SMS) is a potential exemplar of a disorder where heightened social motivation is associated with negative behavioural outcomes. In Down syndrome (DS) strong social motivation is described, but less commonly associated with behavioural problems. Children with SMS (n = 21) and DS (n = 19) were observed during social situations, in which familiarity of adults present and level of attention available were manipulated. ...
Smith-Magenis syndrome (SMS) is a potential exemplar of a disorder where heightened social motivation is associated wit
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