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Silver–Russell syndrome [PDF]

Best Practice & Research Clinical Endocrinology & Metabolism, 2011
The Silver-Russell syndrome (SRS) is a sporadic clinically and genetically heterogeneous disorder. Diagnosis is based on the variable combination of the following characteristics: intrauterine growth retardation, short stature because of lack of catch-up growth, underweight, relative macrocephaly, typical triangular face, body asymmetry and several ...
Gerhard, Binder, Matthias, Begemann, Thomas, Eggermann, Kai, Kannenberg   +3 more
core   +8 more sources

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
doaj   +2 more sources

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, Hedieh Saneifard, Amir Hossein Hosseini   +2 more
doaj   +2 more sources

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, Praveen Ramdurg, Fatima Zohar Lingadalli, Sanjay Ganeshkar   +3 more
doaj   +2 more sources

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, Kelly Hitomi Ueda, Antonio Richieri-Costa, Célia Maria Giacheti   +3 more
doaj   +2 more sources

Atrial septal defect and patent ductus arteriosus closure in an 8‐month‐old patient with Silver‐Russell syndrome

Clinical Case Reports, 2021
We present a case of an 8‐month‐old boy with Silver‐Russell syndrome who had high pulmonary vascular resistance, atrial septal defect, and patent ductus arteriosus. He underwent cardiac surgery using cardiopulmonary bypass without any complications.
Ryoma Oda, Keisuke Nakanishi, Shiori Kawasaki, Atsushi Amano   +3 more
doaj   +2 more sources

Feeding problems in Silver-Russell syndrome [PDF]

Developmental Medicine and Child Neurology, 2001
In order to identify the prevalence and severity of feeding problems in children with Silver‐Russell syndrome(SRS) the feeding difficulties of 32 children with SRS and 32 age‐ and sex‐matched control children were assessed using the Feeding Assessment Questionnaire (Harris and Booth 1992).
J, Blissett, G, Harris, J, Kirk
openaire   +3 more sources

Investigation of methylation profiles in Silver–Russell syndrome to explore episignatures [PDF]

Clinical Epigenetics
Background 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, Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Keiko Matsubara, Maki Fukami, Tsutomu Ogata, Tomoko Kawai, Masayo Kagami   +9 more
doaj   +2 more sources

A Case Report of Silver-Russell Syndrome in Iran

Journal of Dental School, 2020
Objectives Silver-Russell syndrome (SRS) is a rare genetic disorder which is typically characterized by prenatal and postnatal growth failure and asymmetry in the size of the two halves or other parts of the body.
Arezoo Mahdian, Shiva Safari, Nazanin Sanagoo   +2 more
doaj   +3 more sources

Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis [PDF]

Clinical Epigenetics
Context 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, David B. N. Lim, Avinaash V. Maharaj, Miho Ishida, Justin H. Davies, Helen L. Storr   +5 more
doaj   +2 more sources