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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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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Silver-Russell Syndrome and Cognitive Disorders
Pediatric Neurology Briefs, 1995 Cognitive abilities of 20 boys and 5 girls, aged 6 to 11 years, with Silver-Russell syndrome were investigated at the Prince of Wales Hospital, Shatin, Hong Kong, the Institute of Child Health, and Middlesex Hospital, London, UK.
J Gordon Millichap
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Síndrome de Silver-Russell: relato de caso Silver-Russell Syndrome: case report [PDF]
Revista CEFAC, 2006 OBJETIVO: descrever o fenótipo da síndrome de Silver-Russell (SSR) e apresentar um caso diagnosticado com esta afecção genética, abordando aspectos genéticos, psicológicos e fonoaudiológicos.
Natalia Freitas Rossi +3 more
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Silver–Russell syndrome in siblings with orthodontic management
Journal of Cleft Lip Palate and Craniofacial Anomalies, 2023 Silver–Russell syndrome (SRS) is a rare congenital abnormality. The incidence ranges from 1 in 3000 to 100,000 live births. It is characterized by low birth weight, asymmetric limb, relative macrocephaly, high forehead, small triangular-shaped face with ...
Vijaylaxmi Mendigeri +3 more
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Molecular characterization of imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients [PDF]
BMC PediatricsBackground Imprinted genes, characterized by monoallelic expressions (either maternal or paternal), they are crucial for normal growth and development. Disruption of their monoallelic expressions leads to imprinting disorders (ImpDis).
Amal M. Mohamed +11 more
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Investigation of methylation profiles in Silver–Russell syndrome to explore episignatures [PDF]
Clinical EpigeneticsBackground Episignatures are disease-specific, genome-wide DNA methylation patterns identified in more than 100 genetic syndromes caused by mutation of genes related to epigenetic modifiers.
Kaori Hara-Isono +9 more
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Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis [PDF]
Clinical EpigeneticsContext Silver-Russell syndrome (SRS) is a complex multisystem condition requiring timely diagnosis for appropriate management. A clinical diagnosis is made in individuals scoring ≥ 4 Netchine-Harbison Clinical Scoring System (NH-CSS) criteria, with (epi)
Uttara Kurup +5 more
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Silver-Russell syndrome etiology, clinical manifestation, diagnostics and management – literature review. [PDF]
, 2023 Background. Silver-Russell syndrome (SRS) is a rare disorder characterized by intrauterine and postnatal growth retardation, distinct facial features, and various systemic complications. The syndrome's global incidence varies from 1 in 30,000 to 1 in 100,
Jackutė, Gerda,
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Genetic syndromes associated with overgrowth in childhood [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2013 Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific ...
Jung Min Ko
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