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Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach [PDF]

Medicina
Background and Objectives: Silver–Russell Syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction, distinctive facial features, and body asymmetry.
Slavyana Galeva, Giuliana Diglio, Boris Stoilov, Ekaterina Uchikova, Lucian Pop   +4 more
doaj   +2 more sources

Silver-Russell Syndrome: A Case Report [PDF]

Cases Journal, 1998
A 15-year-old male boy with hemihypertrophy (left side) of the body was admitted in the hospital with the history of repeated attacks of convulsion. The patient was diagnosed as Silver-Russell syndrome on clinical ground. Silver-Russell syndrome (SRS) is
Sunil Kumar, AP Jain, Sachin Agrawal, Sindu Chandran, M Patton, HM Saal, E Abraham, JM Tanner   +7 more
core   +6 more sources

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
  +8 more sources

Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome. [PDF]

Eur J Pediatr, 2023
Genetic syndromes often show facial features that provide clues for the diagnosis. However, memorizing these features is a challenging task for clinicians.
Ciancia S, Goedegebuure WJ, Grootjen LN, Hokken-Koelega ACS, Kerkhof GF, van der Kaay DCM.   +5 more
europepmc   +2 more sources

Colorectal cancer in a man with silver-Russell syndrome: a case report. [PDF]

Oxf Med Case Reports
Silver-Russell syndrome (SRS), also known as Russell-Silver syndrome (RSS), is a congenital growth disorder characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, asymmetry, and other distinctive features.
Ibraik F, Hammouri I, Arafat H, Hammouri AG, Qahoush H.   +4 more
europepmc   +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 ...
Kurup U, Lim DBN, Palau H, Maharaj AV, Ishida M, Davies JH, Storr HL.   +6 more
europepmc   +2 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 ...
Vimercati A, Tannorella P, Orlandini E, Calzari L, Moro M, Guzzetti S, Selicorni A, Crippa M, Larizza L, Bonati MT, Russo S.   +10 more
europepmc   +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.
Vimercati A, Tannorella P, Guzzetti S, Calzari L, Gentilini D, Manfredini E, Gori G, Gaudino R, Antona V, Piccione M, Daolio C, Auricchio R, Sirchia F, Minelli A, Rossi E, Bellini M, Biasucci G, Raucci AR, Pozzobon G, Patti G, Napoli F, Larizza L, Maghnie M, Russo S.   +23 more
europepmc   +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
Darneau D, Giabicani E, Netchine I, Pham A.   +3 more
europepmc   +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 ...
Lahmamssi FZ, Saadaoui L, Aynaou H, Salhi H, El Ouahabi H.   +4 more
europepmc   +2 more sources