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Silver-Russell syndrome [PDF]

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, Mohammad lmnul Islam, Hafiz Al Mamun, Shahana A. Rahman   +3 more
doaj   +6 more sources

Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum [PDF]

Front Genet, 2023
The amount of Insulin Growth Factor 2 (IGF2) controls the rate of embryonal and postnatal growth. The IGF2 and adjacent H19 are the imprinted genes of the telomeric cluster in the 11p15 chromosomal region regulated by differentially methylated regions ...
A. Vimercati, P. Tannorella, Eleonora Orlandini, L. Calzari, M. Moro, S. Guzzetti, A. Selicorni, M. Crippa, L. Larizza, M. Bonati, S. Russo   +10 more
semanticscholar   +2 more sources

Approach to the Patient With Suspected Silver-Russell Syndrome

J Clin Endocrinol Metab
Silver-Russell syndrome (SRS) is a clinical diagnosis requiring the fulfillment of ≥ 4/6 Netchine-Harbison Clinical Scoring System (NH-CSS) criteria. A score of ≥ 4/6 NH-CSS (or ≥ 3/6 with strong clinical suspicion) warrants (epi)genetic confirmation ...
Uttara Kurup, David B N Lim, Helena G. Palau, A. Maharaj, Miho Ishida, Justin H Davies, Helen L. Storr   +6 more
semanticscholar   +2 more sources

Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation [PDF]

Front Pediatr
Background A diagnosis of Silver–Russell syndrome (SRS), a rare imprinting disorder responsible for foetal growth restriction, is considered for patients presenting at least four criteria of the Netchine-Harbison clinical scoring system (NH-CSS). Certain
Diane Darneau, É. Giabicani, I. Netchine, A. Pham   +3 more
semanticscholar   +2 more sources

Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the IGF1R Gene

J Clin Endocrinol Metab
Context Silver–Russell Syndrome (SRS) is a growth retardation disorder characterized by pre- and postnatal growth failure, relative macrocephaly at birth, prominent forehead, body asymmetry, and feeding difficulties.
A. Vimercati, P. Tannorella, S. Guzzetti, L. Calzari, D. Gentilini, Emanuela Manfredini, G. Gori, R. Gaudino, Vincenzo Antona, Maria Piccione, Cecilia Daolio, R. Auricchio, Fabio Sirchia, A. Minelli, Elena Rossi, Melissa Bellini, G. Biasucci, A. R. Raucci, Gabriella Pozzobon, G. Patti, F. Napoli, Lidia Larizza, M. Maghnie, S. Russo   +23 more
semanticscholar   +2 more sources

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
doaj   +2 more sources

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, Andrew B. Ross, MD, MPH, Teresa T. Martin-Carreras, MD   +2 more
doaj   +2 more sources

An Unusual Association: Silver-Russell Syndrome and Ectopic Thyroid [PDF]

Cureus, 2022
Silver-Russell syndrome (SRS) is a rare genetic disorder that combines intrauterine growth retardation, facial dysmorphia, and limb asymmetry. We report the case of a patient diagnosed with SRS on a cluster of clinical arguments, associated with thyroid ...
Fatima-Zahra Lahmamssi, L. Saadaoui, H. Aynaou, H. Salhi, H. El Ouahabi   +4 more
semanticscholar   +2 more sources

Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome

J Clin Endocrinol Metab
Context Low birth weight, as seen in Silver-Russell syndrome (SRS), is associated with later cardiometabolic disease. Data on long-term outcomes and adult body composition in SRS are limited. Objective To evaluate body composition and metabolic health in
O. Lokulo-Sodipe, Hazel M. Inskip, Christopher D. Byrne, J. Child, Emma L. Wakeling, Deborah J. G. Mackay, I. Temple, Justin H Davies   +7 more
semanticscholar   +2 more sources

Prenatal diagnosis of Silver–Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review [PDF]

Front Genet
Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder. A retrospective analysis predicted that the live birth prevalence of SRS in Estonia is 1:15,886 [Yakoreva et al., Eur J Hum Genet, 2019, 27(11), 1649–1658].
Ke Wu, Yuying Zhu, Qiumin Zhu
semanticscholar   +2 more sources