Two cases of Smith-Magenis syndrome
نویسندگان
چکیده
SmithMagenis syndrome (SMS) is a rare disorder with multiple congenital anomalies caused by a heterozygous interstitial deletion involving chromosome 17p11.2, where the retinoic acid-induced 1 (RAI1) gene is located, or by a mutation of RAI1. Approximately 90% of the patients with SMS have a detectable 17p11.2 microdeletion on fluorescence in-situ hybridization (FISH). SMS is characterized by mental retardation, distinctive behavioral features, craniofacial and skeletal anomalies, speech and developmental delay, and sleep disturbances. Although there are some intervention strategies that help individuals with SMS, there are no reported specific interventions for improving the outcome in children with SMS. Here, we report two cases of SmithMagenis syndrome. (Korean J Pediatr 2009;52:701-704)
منابع مشابه
Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome
Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently been recognized as a microduplication syndrome that is a reciprocal disease of Smith-Magenis syndrome. In this paper, we report on the clinical and cyto...
متن کاملReciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. pISSN 1011-8934 eISSN 1598-6357 Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean ...
متن کاملThe nature of social preference and interactions in Smith-Magenis syndrome.
This natural observation study was designed to evaluate hypothesized elevated 'attention-seeking' and preference for adult attention in Smith-Magenis syndrome. Ten children with Smith-Magenis syndrome were observed across one school day, together with an age matched sample of 10 children with Down syndrome. Levels of attention given to, and vigilance for, adults and peers were recorded and comp...
متن کاملThe behavioural phenotype of Smith-Magenis syndrome: evidence for a gene-environment interaction.
BACKGROUND Behaviour problems and a preference for adult contact are reported to be prominent in the phenotype of Smith-Magenis syndrome. In this study we examined the relationship between social interactions and self-injurious and aggressive/disruptive behaviour in Smith-Magenis syndrome to explore potential operant reinforcement of problem behaviours and thus a gene-environment interaction. ...
متن کاملBehavioral disturbance and treatment strategies in Smith-Magenis syndrome
BACKGROUND Smith-Magenis syndrome is a complex neurodevelopmental disorder that includes intellectual deficiency, speech delay, behavioral disturbance and typical sleep disorders. Ninety percent of the cases are due to a 17p11.2 deletion encompassing the RAI1 gene; other cases are linked to mutations of the same gene. Behavioral disorders often include outbursts, attention deficit/hyperactivity...
متن کاملStress and coping in families of children with Smith-Magenis syndrome.
To describe stress and coping in families of children with Smith-Magenis syndrome, the present authors interviewed and received questionnaires from families of 36 children with this disorder. For measures of total stress, and of parent and family problems, the best predictors were the family's number of friends and the child's degree of impairment on the Vineland socialization domain; the singl...
متن کامل