Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

Silver Russell syndrome

Written2008-09Maria Piccione, Giovanni Corsello
Dipartimento Materno Infantile, University of Palermo, Italy

(Note : for Links provided by Atlas : click)
 

Identity

Atlas_Id 10149
Note The Silver Russell syndrome is characterized by intrauterine and postnatal growth retardation, craniofacial abnormalities, body asymmetry and delayed bone maturation.
Inheritance Most of patients with Silver Russell syndrome are sporadic, although autosomal recessive, autosomal dominant and X-linked dominant modes of inheritance have all been suggested.

Etiology : The Silver Russell syndrome is genetically heterogeneous. Maternal uniparental disomy of chromosome 7 is observed in 7-10% of patients (7p11.2-p13 and 7q31-qter regions). More than 35% of patients carry a hypomethylation of the telomeric imprinting centre region 1 (ICR1) in 11p15 including the H19 and IGF-II genes; single patients show a maternal duplication of 11p15. Rare chromosomal rearrangements were found in the Silver Russell like syndrome involving the short arm of chromosome 7, the short and long arm chromosome 17 and the long arm chromosome 1.

Clinics

Phenotype and clinics Abnormalities :

  • Growth : intrauterine growth retardation, short stature/dwarfism, poor postnatal growth below or lower than 2DS at diagnosis, delayed skeletal maturation during infancy.
  • Craniofacial : Preservation of occipito-frontal head circumference, triangular face with prominent forehead, low-set ears, downturned mouth (fig.1).
  • Skeletal findings : delayed closure of anterior fontanella, delayed bone maturation, non progressive skeletal asymmetry, clynodactyly of fifth finger, brachydactyly V fingers, syndactyly and camptodactyly.

    Occasional abnormalities :

  • Cardivascular anomaly : atrial septal defect and pulmonary stenosis.
  • Performance : muscular hypotonia and hypotrophy, rare motor/neuropsychological delay, feeding difficulties, speech delay.
  • Gastrointestinal anomalies : gastroesophageal reflux disease and esophagitis.
  • Hypoglicemia
  • Genital abnormalities : hypospadia, criptorchidism and inguinal hernia.
  • Skin : café au lait spots.
  • Tumors : testicular cancer , hepatocellular carcinoma, craniopharyngioma and supratentorial juvenile pilocystic astrocytoma.
    •  
    Differential diagnosis It is a clinical overlap with other syndromes associated with intrauterine growth retardation and craniofacial abnormalities (Table 1).
     
    Evolution Multidisciplinary management (pediatric, endocrinologic care etc.) is necessary. Growth hormone does not allow the target height to be reached.
    Prognosis Beyond short stature and slender build, long-term prognosis is good.

    Bibliography

    The genetic aetiology of Silver-Russell syndrome.
    Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE.
    J Med Genet. 2008 Apr;45(4):193-9. Epub 2007 Dec 21.
    PMID 18156438
     
    Autosomal dominant Russell-Silver syndrome.
    Al-Fifi S, Teebi AS, Shevell M.
    (Letter) Am J Med Genet. 1996 Jan 2;61(1):96-7.
    PMID 8741931
     
    Gastrointestinal complications of Russell-Silver syndrome: a pilot study.
    Anderson J, Viskochil D, O'Gorman M, Gonzales C.
    Am J Med Genet. 2002 Nov 15;113(1):15-9.
    PMID 12400060
     
    Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.
    Bernard LE, Penaherrera MS, Van Allen MI, Wang MS, Yong SL, Gareis F, Langlois S, Robinson WP.
    Am J Med Genet. 1999 Nov 26;87(3):230-6.
    PMID 10564876
     
    Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.
    Bliek J, Terhal P, van den Bogaard MJ, Maas S, Hamel B, Salieb-Beugelaar G, Simon M, Letteboer T, van der Smagt J, Kroes H, Mannens M.
    Am J Hum Genet. 2006 Apr;78(4):604-14. Epub 2006 Mar 1.
    PMID 16532391
     
    Hepatocellular carcinoma in a child with familial Russell-Silver syndrome.
    Chitayat D, Friedman JM, Anderson L, Dimmick JE.
    Am J Med Genet. 1988 Dec;31(4):909-14.
    PMID 2853572
     
    ICR1 epimutations in llp15 are restricted to patients with Silver-Russell syndrome features.
    Eggermann T, Meyer E, Caglayan AO, Dundar M, Schonherr N.
    J Pediatr Endocrinol Metab. 2008 Jan;21(1):59-62.
    PMID 18404973
     
    Supratentorial juvenile pilocytic astrocytoma in a young adult with Silver-Russell syndrome.
    Fenton E, Refai D, See W, Rawluk DJ.
    Br J Neurosurg. 2008 Jul 24:1-2. Epub ahead of print.
    PMID 18661310
     
    The Russell-Silver syndrome without asymmetry.
    Gareis FJ, Smith DW, Summitt RL.
    J Pediatr. 1971 Nov;79(5):775-81.
    PMID 5116700
     
    Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.
    Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le Merrer M, Burglen L, Bertrand AM, Netchine I, Le Bouc Y.
    Nat Genet. 2005 Sep;37(9):1003-7. Epub 2005 Aug 7.
    PMID 16086014
     
    Hand radiographs in Russell-Silver syndrome.
    Herman TE, Crawford JD, Cleveland RH, Kushner DC.
    Pediatrics. 1987 May;79(5):743-4.
    PMID 3575032
     
    Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.
    Hitchins MP, Stanier P, Preece MA, Moore GE.
    J Med Genet. 2001 Dec;38(12):810-9. (Review).
    PMID 11748303
     
    Hand anomalies in Russell Silver syndrome.
    Lahiri A, Lester R.
    J Plast Reconstr Aesthet Surg. 2007 Dec 31. Epub ahead of print.
    PMID 18171637
     
    Cognitive abilities associated with the Silver-Russell syndrome.
    Lai KY, Skuse D, Stanhope R, Hindmarsh P.
    Arch Dis Child. 1994 Dec;71(6):490-6.
    PMID 7726606
     
    Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.
    Monk D, Bentley L, Hitchins M, Myler RA, Clayton-Smith J, Ismail S, Price SM, Preece MA, Stanier P, Moore GE.
    Hum Genet. 2002 Oct;111(4-5):376-87. Epub 2002 Aug 16.
    PMID 12384779
     
    Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome.
    Monk D, Wakeling EL, Proud V, Hitchins M, Abu-Amero SN, Stanier P, Preece MA, Moore GE.
    Am J Hum Genet. 2000 Jan;66(1):36-46.
    PMID 10631135
     
    A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7.
    Moore MW, Dietz LG, Tirtorahardjo B, Cotter PD.
    Hum Mutat. 2003 Jun;21(6):645-8.
    PMID 12754712
     
    The Silver syndrome: congenital asymmetry, short stature and variations in sexual development. Roentgen features.
    Moseley JE, Moloshok RE, Freiberger RH.
    Am J Roentgenol Radium Ther Nucl Med. 1966 May;97(1):74-81.
    PMID 5938052
     
    Molecular genetics studies of human chromosome 7 in Russell-Silver syndrome.
    Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW.
    Genomics. 2002 Feb;79(2):186-96.
    PMID 11829489
     
    11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.
    Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Demay MC, Danton F, Petriczko E, Bertrand AM, Heinrichs C, Carel JC, Loeuille GA, Pinto G, Jacquemont ML, Gicquel C, Cabrol S, Le Bouc Y.
    J Clin Endocrinol Metab. 2007 Aug;92(8):3148-54. Epub 2007 May 15.
    PMID 17504900
     
    Maternal uniparental disomy 7 in Silver-Russell syndrome.
    Preece MA, Price SM, Davies V, Clough L, Stanier P, Trembath RC, Moore GE.
    J Med Genet. 1997 Jan;34(1):6-9.
    PMID 9032641
     
    The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.
    Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC.
    J Med Genet. 1999 Nov;36(11):837-42.
    PMID 10544228
     
    The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
    Schonherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T.
    J Med Genet. 2007 Jan;44(1):59-63. Epub 2006 Sep 8.
    PMID 16963484
     
    Autosomal recessive Silver-Russell syndrome
    Teebi AS.
    Clin Dysmorphol. 1992 Jul;1(3):151-6.
    PMID 1285272
     
    Testicular cancer in a Russell-Silver dwarf.
    Weiss GR, Garnick MB.
    J Urol. 1981 Dec;126(6):836-7.
    PMID 6119370
     

    Citation

    This paper should be referenced as such :
    Piccione, M ; Corsello, G
    Silver Russell syndrome
    Atlas Genet Cytogenet Oncol Haematol. 2009;13(9):688-690.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Tumors/SilverRussellID10149.html

    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed


    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Fri Jun 30 11:24:37 CEST 2017

    Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

    For comments and suggestions or contributions, please contact us

    jlhuret@AtlasGeneticsOncology.org.