SUN-691 Type 2 Diabetes Management in the Context of Smith-Magenis Syndrome: Case Report
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چکیده
منابع مشابه
Smith-Magenis syndrome with bilateral vesicoureteral reflux: a case report.
Smith-Magenis syndrome (SMS) is a syndrome of multiple malformations caused by an interstitial deletion of chromosome 17p11.2. We report the case of an 8-year-old boy with SMS. Down syndrome was initially suspected in infancy based on the findings of generalized hypotonia, flat midface, and upslanting palpebral fissures. His sleep had been disturbed since infancy, and self-injurious behavior de...
متن کاملAutism spectrum features in Smith-Magenis syndrome.
Smith-Magenis syndrome (SMS; OMIM 182290) is a neurodevelopmental disorder characterized by a well-defined pattern of anomalies. The majority of cases are due to a common deletion in chromosome 17p11.2 that includes the RAI1 gene. In children with SMS, autistic-like behaviors and symptoms start to emerge around 18 months of age. This study included 26 individuals (15 females and 11 males), with...
متن کاملSleep Disturbance in Smith-Magenis Syndrome
Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. Although the physical and molecular genetic features of SMS are increasingly well understood, work is more limited on SMS’s behavioral phenotype, which includes self-injury, tantrums, and sleep disturbance. This study ex...
متن کاملOtorhinolaringologic manifestation of Smith-Magenis syndrome.
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation (MCA/MR) syndrome link to a contiguous-gene deletion syndrome, involving chromosome 1 7p 11.2,whose incidence is estimated to be 1:25,000 livebirth. SMS is characterised by a specific physical, behavioural and developmental pattern. The main clinical features consist of a broad flat midface with brachycefaly, broad...
متن کاملCongenital Scoliosis in Smith–Magenis Syndrome
The Smith–Magenis syndrome (SMS) is a complex and rare congenital condition that is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioral, and neurocognitive abnormalities, as well as variable multisystemic manifestations. Little is reported about spinal deformity associated with this syndrome. This study is to present a case of scoliosis occurring in the ...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2020
ISSN: 2472-1972
DOI: 10.1210/jendso/bvaa046.098