Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
نویسندگان
چکیده
منابع مشابه
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of K...
متن کاملThe 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).
The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. In addition to normal growth and a constellation of minor dysmorphic features, this syndrome is characterized by neurological deficits which include global developmental delay, moderate to severe intellectual impairment, absent or ...
متن کاملMitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome
Phelan-McDermid Syndrome (PMS), which is defined by a deletion within 22q13, demonstrates significant phenotypic variation. Given that six mitochondrial genes are located within 22q13, including complex I and IV genes, we hypothesize that mitochondrial complex activity abnormalities may explain phenotypic variation in PMS symptoms. Complex I, II, II + III and IV activity was measured in 51 PMS ...
متن کاملSleep Disturbances in Individuals With Phelan-McDermid Syndrome: Correlation With Caregivers' Sleep Quality and Daytime Functioning.
Study Objectives The aims of this study were to document sleep disturbances in individuals with Phelan-McDermid syndrome (PMS), to assess whether these individuals had been evaluated for sleep disorders, and to examine relationships between the sleep behavior of these individuals and the sleep behavior and daytime functioning of their caregivers. Methods Participants were 193 caregivers of in...
متن کاملA pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome
BACKGROUND Autism spectrum disorder (ASD) is now understood to have multiple genetic risk genes and one example is SHANK3. SHANK3 deletions and mutations disrupt synaptic function and result in Phelan-McDermid syndrome (PMS), which causes a monogenic form of ASD with a frequency of at least 0.5% of ASD cases. Recent evidence from preclinical studies with mouse and human neuronal models of SHANK...
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ژورنال
عنوان ژورنال: Korean Journal of Pediatrics
سال: 2016
ISSN: 1738-1061,2092-7258
DOI: 10.3345/kjp.2016.59.11.s25