Results 11 to 20 of about 1,914,079 (159)
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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Russell–Silver syndrome associated with low conus medullaris
Journal of Pediatric Neurosciences, 2016 Russell–Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry.
Larisa Gabor +5 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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Torticollis as the Main Presentation in a Child with Russell-Silver Syndrome: A Case Report [PDF]
Case Reports in Pediatrics, 2012 Russell-Silver syndrome is a genetic disorder the inheritance pattern of which is mostly sporadic. Some of the features of the syndrome are present at birth, and others appear in later years.
Mohsen Javadzadeh +2 more
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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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Anesthesia experience in an adult Silver-Russell syndrome: a case report [PDF]
JA Clinical ReportsBackground There are no reports of anesthesia use in adult patients with Silver-Russell syndrome (SRS). Here, we report our experience with anesthesia in an adult patient with SRS complicated by chronic respiratory failure.
Akinobu Hibino +2 more
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Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver–Russell syndrome: case reports and literature review [PDF]
Clinical EpigeneticsSilver–Russell syndrome (SRS) is a representative imprinting disorder characterized by pre- and postnatal growth failure. We encountered two Japanese SRS cases with a de novo pathogenic frameshift variant of HMGA2 (NM_003483.6:c.138_141delinsCT, p ...
Kaori Yamoto +4 more
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Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome [PDF]
JCI InsightSilver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation. HMGA2 variants are a rare cause of SRS and its functional role in human linear growth is unclear.
Avinaash V. Maharaj +19 more
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