Uniparental Disomy Causing Myoclonus Dystonia Associated with Russell Silver Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12768
Abstract: Myoclonus dystonia (MD) is a rare movement disorder characterized by alcohol-responsive myoclonic jerks, dystonia, and psychiatric complaints, which is often associated with an autosomal-dominant pathogenic variant (mutation) in the epsilon-sarcoglycan gene (SGCE), located on chromosome… read more here.
Keywords: uniparental disomy; mupd7; silver syndrome; russell silver ... See more keywords
Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000308
Abstract: Introduction Russell-Silver syndrome (RSS, OMIM 180860) is a prenatal-onset growth insufficiency syndrome characterized by intrauterine growth restriction, postnatal growth failure, relative macrocephaly, frontal bossing, asymmetry, and feeding difficulty (Silver et al., 1953; Russell, 1954; Wakeling… read more here.
Keywords: absent digit; silver syndrome; russell silver; syndrome expanding ... See more keywords
Unusual association of torticollis with Russell-Silver syndrome
Sign Up to like & getrecommendations! Published in 2023 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-253967
Abstract: Russell-Silver syndrome is a unique disorder characterised by intrauterine growth retardation before and after birth, large-sized head, a triangular facial appearance, a protuberant forehead, asymmetry and feeding difficulties. This extensive spectrum of features varies in… read more here.
Keywords: silver syndrome; russell silver; association torticollis; unusual association ... See more keywords
Child Neurology: Myoclonus-dystonia in Russell-Silver Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Neurology"
DOI: 10.1212/wnl.0000000000010076
Abstract: A 14-year-old girl presented to our pediatric neurology clinic with complaints of hand jerks noticed since age 6. The girl reported jerky hand movements that became more severe with time and interfered with daily tasks,… read more here.
Keywords: dystonia russell; child neurology; myoclonus dystonia; russell silver ... See more keywords
Molecular Evaluation of Children with Clinical Russell-Silver Phenotypes: The First Report From Iran
Sign Up to like & getrecommendations! Published in 2019 at "Iranian Journal of Pediatrics"
DOI: 10.5812/ijp.81388
Abstract: Background: Russell-Silver syndrome is a rare heterogeneous genetic disorder that is mostly known because of its prenatal and postnatal growth retardation. Patients with Russell-Silver syndrome have syndromic facial appearance, as well as some other common… read more here.
Keywords: silver syndrome; iran; methylation; russell silver ... See more keywords