Silver-Russell syndrome: phenotype features and oral health status [PDF]
Orphanet Journal of Rare DiseasesBackground Silver-Russell Syndrome is a rare malformation syndrome with a variable clinical and genetic presentation. Its incidence is estimated at 1:70.000–1:100.000 births.
Paula Piekoszewska-Ziętek +4 more
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Executive functioning in adolescents and adults with Silver-Russell syndrome. [PDF]
PLoS ONE, 2023 Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. The two principal causes of SRS are loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy of chromosome ...
Mélissa Burgevin +12 more
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Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome [PDF]
Human Genome Variation, 2022 We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD(7)mat).
Atsushi Hattori +8 more
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Bangabandhu Sheikh Mujib Medical University Journal, 2016 Silver-Russell syndrome is clinically and genetically a heterogeneous disorder. In most of the cases, etiology is unknown, only in 10% cases defect in chromosome 7 is identified. It bas distinctive facial features and asymmetric limbs.
Shohela Akhter +3 more
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Functional Independence of Taiwanese Children with Silver–Russell Syndrome [PDF]
DiagnosticsBackground: Silver–Russell syndrome (SRS) is a genetic disorder characterized by prenatal and postnatal growth retardation. Affected individuals commonly present with low birth weight, intrauterine growth restriction, postnatal short stature ...
Hung-Hsiang Fang +15 more
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Silver–Russell syndrome associated with type‐I Chiari malformation. A case report [PDF]
Clinical Case Reports, 2023 Comprehensive medical evaluation is important for patients with SRS to identify associated medical conditions and provide timely interventions. Clinicians should remain vigilant for potential neurological manifestations in SRS patients.
Babar Naeem, Javeria Nasim, Tipu Sultan
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Congenital absence of the bilateral long heads of the biceps brachii tendons in a patient with Silver-Russell syndrome [PDF]
Radiology Case Reports, 2023 Agenesis of the long head of biceps tendon (LHBT) is a congenital anomaly not commonly reported in the literature, and bilateral absence of the LHBT is even more rare.
Nathan Markus, BS +2 more
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Silver-Russell syndrome in Hong Kong [PDF]
Hong Kong Medical Journal, 2016 published_or_final_versio
Brian HY Chung +6 more
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Clinical spectrum of silver - Russell syndrome
Contemporary Clinical Dentistry, 2013 Silver - Russell syndrome is a clinically and genetically heterogenous condition characterized by severe intrauterine and postnatal growth retardation, craniofacial disproportion and normal intelligence downward curvature of the corner of the mouth ...
Sapna N.K. Varma, Balagopal R Varma
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Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report [PDF]
BMC Medical Genomics, 2018 Background Silver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mechanisms involved in SRS are loss of
Yerai Vado +7 more
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