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Russell Silver Syndrome: more detail

Silver-Russell Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by Icon Health Publications, 2004-06-09
Russell-Silver syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Paul Johnson, 2005
Growth Disorders: Achondroplasia, Dwarfism, Acromegaly, Primordial Dwarfism, Psychosocial Short Stature, Midgetville, Silver-russell Syndrome

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Health Library
Rural Issues. russellsilver syndrome. russell-silver syndrome Support Network-russell-silver syndrome. Top of page Need A Doctor?
http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/_SearchResults.asp?le
Health Library -
groups. russellsilver syndrome. This information russell-silver syndrome Support Network. National network. Founded 1989. Network and exchange
http://12.42.224.152/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29rus
HealthCentral - Pediatrics Encyclopedia - Russell-Silver Syndrome
russellsilver syndrome. Children with russell-silver syndrome appear sporadically in families with no prior history of the condition.
http://www.healthcentral.com/peds/top/001209.cfm

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Health Library -
groups. russellsilver syndrome. Self Help Clearinghouse. russell-silver syndrome Support Network. National network. Founded
http://12.31.13.113/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29rus
EMedicine - Silver-Russell Syndrome : Article By Ainu Prakash-Cheng, MD, PhD
Synonyms and related keywords SRS, russellsilver syndrome, silver-russell dwarfism, silver syndrome. Vol. I. 1997 737-752. Jones KL russell-silver syndrome.
http://www.emedicine.com/ped/topic2099.htm

Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: December 12, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: SRS, Russell-Silver syndrome, Silver-Russell dwarfism, Silver syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Ainu Prakash-Cheng, MD, PhD , Assistant Professor of Human Genetics and Pediatrics, Department of Human Genetics, Mount Sinai School of Medicine Coauthor(s): Margaret McGovern, MD, PhD , Vice Chair, Associate Professor, Department of Human Genetics, Mount Sinai School of Medicine Ainu Prakash-Cheng, MD, PhD, is a member of the following medical societies: American Academy of Pediatrics American Society of Gene Therapy , and American Society of Human Genetics Editor(s): Elaine H Zackai, MD , Director of Clinical Genetics Center, Professor of Pediatrics, Department of Pediatrics, Division of Human Genetics and Molecular Biology, University of Pennsylvania, Children's Hospital of Philadelphia;
EMedicine - Silver-Russell Syndrome : Article Excerpt By: Ainu Prakash-Cheng, MD
Excerpt from silverrussell syndrome. Synonyms, Key Words, and Related Terms SRS, russell-silver syndrome, silver-russell dwarfism, silver syndrome.
http://www.emedicine.com/ped/byname/silver-russell-syndrome.htm

Extractions: (advertisement) Synonyms, Key Words, and Related Terms: SRS, Russell-Silver syndrome, Silver-Russell dwarfism, Silver syndrome Background: Silver-Russell syndrome (SRS) originally was described by Silver and colleagues in 1953 and, soon afterwards, by Russell in 1954. The first reports were in children with characteristic facies, low birthweight, asymmetry, and growth retardation. Over the past several years, more than 400 patients have been described, with phenotypes ranging from mild to classic. Some patients have maternal uniparental disomy of chromosome 7, with the possibility of imprinting (eg, inheriting 2 copies of maternal chromosome 7, with no paternal contribution). Pathophysiology: Growth failure is the primary abnormality. Patients present with intrauterine growth retardation, difficulty feeding, failure to thrive, or postnatal growth retardation that may be caused by immature osseous development through early childhood. Although catch-up growth often occurs during adolescence, the final height still is less than normal ( -3.6 SD). Older children and adults do not manifest clinical features as clearly as infants or young children.
Database Search Results
database does not imply endorsement by the US Department of Health and Human Services.. Searched keywords for russellsilver syndrome.
http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Russell-Silver Syndro
Silver-Russell Syndrome (Alexander Russell) (www.whonamedit.com)
Also known as russell dwarf,russell nanism,russell syndrome,russellsilver syndrome,silver s syndrome. silver-russell syndrome (Alexander russell)
http://www.whonamedit.com/synd.cfm/2892.html

Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A syndrome of intra-uterine dwarfism with low birth weight characterized by short stature, skeletal asymmetry, relatively large skull with triangular shaped head, small incurved little fingers, characteristic facies, precocious sexual development. Renal and/or ureteral defects and mental retardation may occur in some cases. Café au lait macules are present in nearly half the cases. Nephroblastoma can be a complication. No sex preponderance. The mode of inheritance is unknown.
Syndrome De Silver-Russell
Translate this page Références bibliographiques Angehrn V., Zachmann M., Prader A. silver-russell syndrome. Arch Dis Child 1994, 71 490-6. Patton MA russell-silver syndrome.
http://www.orpha.net/data/patho/FR/fr-silver.html

Extractions: Angehrn V., Zachmann M., Prader A. Silver-Russell syndrome. Observations in 20 patients. Helv Paediatr Acta 1979, 34: 297-308. Eggermann T., Wollmann H.A., Kuner R., Eggermann K., Enders H., Kaiser P., Ranke M.B. Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet 1997, 100: 415-9. Escobar V., Gleiser S., Weaver D.D. Phenotypic and genetic analysis of the Silver-Russell syndrome. Clin Genet 1978, 13: 278-88. Hannula K., Kere J., Pirinen S., Holmberg C., Lipsanen-Nyman M. Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J Med Genet 2001, 38: 273-8.
StartHere Content
About us. russellsilver syndrome. russell-silver syndrome is a rare disorder in which growth is delayed before birth. Children usually
http://www.gosport.gov.uk/starthere/html/M growth 09.htm

Extractions: Affected children may have short stature and be quite small and thin for their age. Parts of their body may grow at different rates, especially the head, trunk, arms, and legs. Range and severity varies. There is no specific treatment for Russell-Silver syndrome although growth hormone replacement is sometimes used.
Chromosome 7 Clinical Table UNIPARENTAL DISOMY 7
10227403_1, 47, XX, upd(7)mat, +r(7)(p13q11)pat/ 46, XX, upd(7)mat, russellsilver syndrome, pter, qter, 10227403, 10789928, partial isodisomy, Edit.
http://www.chr7.org/clinical.php?breaktype=UNIPARENTAL DISOMY 7&browser=gbrowse
Canadian Directory Of Genetic Support Groups
Index by support group. Canadian Directory of Genetic Support Groups. russellsilver syndrome Network 448 North Macombe St. Munro, Michigan
http://www.lhsc.on.ca/programs/medgenet/russells.htm
1653: Russell-Silver Syndrome: Identification Of A Candidate Region On The Short
russellsilver syndrome Identification of a candidate region on the short arm of chromosome 7. BA Fernandez 1 , I. Teshima 1 , K. Nakabayashi 1 , V. Proud 2
http://www.faseb.org/genetics/ashg99/f1653.htm

Extractions: Program Nr: 1653 Russell-Silver syndrome: Identification of a candidate region on the short arm of chromosome 7. B.A. Fernandez , I. Teshima , K. Nakabayashi , V. Proud , R. Weksberg , S.W. Scherer 1) Dept. of Genetics, Hosp Sick Children, Univ Toronto, Toronto, ON, Canada; 2) Valley Children's Hosp, Madera, CA. Russell-Silver syndrome (RSS) is a form of dwarfism characterized by IUGR, triangular facies and 5th finger clinodactyly. Ten percent of sporadic cases are associated with maternal uniparental disomy for chromosome 7 (matUPD7), suggesting that the etiology in some patients is an alteration in one or more imprinted genes on chromosome 7. Two RSS patients were identified, each with a cytogenetic rearrangement of 7p. Patient 1 had a partial duplication of 7p [46,XX,dup(7)(p12p14)]. Patient 2 had a paracentric inversion, with the proximal inversion breakpoint at 7p14 [46,XY,inv(7)(p14p21)]. We hypothesized that the RSS phenotype in both patients might be due to alteration in an imprinted gene or region on 7p. Also, given the previous matUPD7 data, we hypothesized that patient 1's duplication was carried on her maternal chromosome 7. The first hypothesis was tested by fluorescence in situ hybridization (FISH) mapping. Metaphase FISH experiments using YACs and PACs for the 7p region were performed. Results indicate that patient 1's duplication extends from 7p12 into 7p14. In patient 2, a YAC that spans the proximal (7p14) inversion breakpoint, is also duplicated in patient 1. Thus, a common region of involvement (1 Mb in size) on 7p14 has been identified, and we propose this as a possible RSS candidate region.
Entrez PubMed
Click here to read The spectrum of silverrussell syndrome a clinical and molecular genetic study and new diagnostic criteria.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
Entrez PubMed
Slipped capital femoral epiphysis associated with russellsilver syndrome. Limbird TJ. Department of Orthopaedics and Rehabilitation
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=2
GEMdatabase - Selected Title
TITLE russellsilver syndrome. LANGUAGE English. LENGTH 11 pages. DATE November 2001. COST CONDITIONS russell-silver syndrome. SUBJECTS
http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=993
GEMdatabase - Browse Titles
russellsilver syndrome This review focuses on the diagnosis, management, and genetic counseling of patients and families with russell-silver syndrome.
http://www.gemdatabase.org/GEMDatabase/BrowseTitles.asp?curpage=38
Disease - Russell-Silver Syndrome, North Carolina
Disease russell-silver syndrome, Online Medical Encyclopedia courtesy of University Health Systems of Eastern Carolina serving 29 counties in eastern North
http://www.uhseast.com/11659.cfm

Extractions: Back Email Us Search Centers of Excellence ... Disease Management Definition: Rusell-Silver syndrome is a congenital disease (present at birth) characterized by short stature and, frequently, asymmetry in the size of the two halves or other parts of the body. Alternative Names: Silver-Russell syndrome; Silver syndrome Causes And Risk: Genetic problems are thought to cause this syndrome, although the specific gene(s) remain to be discovered. The pattern of inheritance has not been determined, but in most cases it seems to occur without any family history of the condition. Children with Russell-Silver syndrome are born small and generally achieve less than 5 feet at adult height. Side-to-side asymmetry is fairly common. For example, a left body part may be larger than the right counterpart. This asymmetry may occur anywhere including the face. Other characteristics include excessive sweating , a small triangular face that makes the skull look large by comparison, inward curving 5th fingers, and colored spots on the skin called cafe-au-lait spots Symptoms: slow growth before birth short stature throughout childhood and at final height cafe-au-lait (coffee with milk) colored spots severe feeding problems in childhood (reflux disease, food aversion, failure to thrive)
Russell-Silver Syndrome
russellsilver syndrome. Definition Children with russell-silver syndrome are born small and generally achieve less than 5 feet at adult height.
http://www.shands.org/health/information/article/001209.htm

Extractions: Causes, incidence, and risk factors: Genetic problems are thought to cause this syndrome, although the specific gene(s) remain to be discovered. The pattern of inheritance has not been determined, but in most cases it seems to occur without any family history of the condition. Children with Russell-Silver syndrome are born small and generally achieve less than 5 feet at adult height. Side-to-side asymmetry is fairly common. For example, a left body part may be larger than the right counterpart. This asymmetry may occur anywhere including the face. Other characteristics include excessive sweating , a small triangular face that makes the skull look large by comparison, inward curving 5th fingers, and colored spots on the skin called cafe-au-lait spots
Disease - Russell-Silver Syndrome - Detroit, Michigan
Disease russell-silver syndrome - courtesy of Henry Ford Health System of Detroit, Michigan. Disease - russell-silver syndrome. Definition
http://www.henryfordhealth.org/12233.cfm

Extractions: Back to main Health Information page Definition: Rusell-Silver syndrome is a congenital disease (present at birth) characterized by short stature and, frequently, asymmetry in the size of the two halves or other parts of the body. Alternative Names: Silver-Russell syndrome; Silver syndrome Causes And Risk: Genetic problems are thought to cause this syndrome, although the specific gene(s) remain to be discovered. The pattern of inheritance has not been determined, but in most cases it seems to occur without any family history of the condition. Children with Russell-Silver syndrome are born small and generally achieve less than 5 feet at adult height. Side-to-side asymmetry is fairly common. For example, a left body part may be larger than the right counterpart. This asymmetry may occur anywhere including the face. Other characteristics include excessive sweating , a small triangular face that makes the skull look large by comparison, inward curving 5th fingers, and colored spots on the skin called cafe-au-lait spots Symptoms: slow growth before birth short stature throughout childhood and at final height cafe-au-lait (coffee with milk) colored spots severe feeding problems in childhood (reflux disease, food aversion, failure to thrive)

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