WordNet

made from or largely consisting of silver; "silver bracelets"
a soft white precious univalent metallic element having the highest electrical and thermal conductivity of any metal; occurs in argentite and in free form; used in coins and jewelry and tableware and photography (同)Ag, atomic number 47
coins made of silver
make silver in color; "Her worries had silvered her hair"
turn silver; "The mans hair silvered very attractively"
having the white lustrous sheen of silver; "a land of silver (or silvern) rivers where the salmon leap"; "repeated scrubbings have given the wood a silvery sheen" (同)silvern, silvery
coat with a layer of silver or a silver amalgam; "silver the necklace"
English philosopher and mathematician who collaborated with Whitehead (1872-1970) (同)Bertrand Russell, Bertrand Arthur William Russell, Earl Russell
United States basketball center (born in 1934) (同)Bill Russell, William Felton Russell
United States religious leader who founded the sect that is now called Jehovahs Witnesses (1852-1916) (同)Charles Taze Russell
Irish writer whose pen name was A.E. (1867-1935) (同)George William Russell, A.E.
United States astronomer who developed a theory of stellar evolution (1877-1957) (同)Henry Russell, Henry Norris Russell
English film director (born in 1927) (同)Ken Russell, Henry Kenneth Alfred Russell
United States entertainer remembered for her roles in comic operas (1861-1922) (同)Lillian Russell
a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

『銀』(金属元素;化学記号は『Ag』) / (商品・通貨基準としての)銀 / 『銀貨』(一般に銀白色の)硬貨 / 《集合的に》『銀(銀めっき)の食器類』,銀器 / 『銀製の』,銀めっきした / 銀色の,銀白色の / …‘に'銀めっきする / 《文》…‘を'銀色にする / 銀色になる
ラッセル(『Bertrand~』;1872‐1970;英国の哲学者・数学者)
(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/28 14:02:29」(JST)

wiki en

Silver–Russell dwarfism, also called Silver–Russell syndrome (SRS) or Russell–Silver syndrome (RSS) is a growth disorder occurring in approximately 1/50,000 to 1/100,000 births. In the United States it is usually referred to as Russell–Silver syndrome, and Silver–Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism and is one of the few forms that is considered treatable in some cases.

There is no statistical significance of the syndrome occurring in males or females.

Etiology

Its exact cause is unknown, but present research points toward a genetic component, possibly following maternal genes.

It involves hypomethylation of H19 and IGF2.^[1] In 10% of the cases the syndrome is associated with maternal uniparental disomy (UPD) on chromosome 7.^[2] This is an imprinting error where the person receives two copies of chromosome 7 from the mother (maternally inherited) rather than one from each parent.

Like other imprinting disorders (e.g. Prader–Willi syndrome, Angelman syndrome, and Beckwith–Wiedemann syndrome), Silver–Russell syndrome may be associated with the use of assisted reproductive technologies such as in vitro fertilization.^[3]

Diagnosis

A somewhat triangular-shaped head and delicate facial features are typical characteristics of Russell-Silver Syndrome.

Although confirmation of a specific genetic marker is in a significant number of individuals, there are no tests to clearly determine if this is what a person has. As a 'syndrome' a diagnosis is typically given for children upon confirmation of the presence of several 'symptoms' listed below. ^[4] Symptoms are Intrauterine Growth Restriction (IUGR) combined with some of the following:

Often small for gestational age (SGA) at birth (birth weight less than 2.8 kg)
Feeding problems: the baby is uninterested in feeding and takes only small amounts with difficulty
Hypoglycemia
Excessive sweating as a baby, especially at night, and a greyness or pallor of the skin. This may be a symptom of hypoglycemia
Triangular shaped face with a small jaw and a pointed chin that tends to lessen slightly with age. The mouth tends to curve down
A blue tinge to the whites of the eyes in younger children
Head circumference may be of normal size and disproportionate to a small body size
Wide and late-closing fontanelle
Clinodactyly
Body asymmetry: one side of the body grows more slowly than the other
Continued poor growth with no "catch up" into the normal centile lines on growth chart
Precocious puberty (occasionally)
Low muscle tone
Gastroesophageal reflux disease
A striking lack of subcutaneous fat
Late closing of the opening between the heart hemispheres
Constipation (sometimes severe)

Treatment

The caloric intake of children with RSS must be carefully controlled in order to provide the best opportunity for growth.^[4] If the child is unable to tolerate oral feeding, then enteral feeding may be used, such as the percutaneous endoscopic gastrostomy.

In children with limb-length differences or scoliosis, physiotherapy can alleviate the problems caused by these symptoms. In more severe cases, surgery to lengthen limbs may be required. To prevent aggravating posture difficulties children with leg length differences may require a raise in their shoe.

Growth hormone therapy is often prescribed as part of the treatment of RSS. The hormones are given by injection typically daily from the age of 2 years old through teenage years. It may be effective even when the patient does not have a growth hormone deficiency. Growth hormone therapy has been shown to increase the rate of growth in patients^[5] and consequently prompts 'catch up' growth. This may enable the child to begin their education at a normal height, improving their self-esteem and interaction with other children. The effect of growth hormone therapy on mature and final height is as yet uncertain.^[6] There are some theories suggesting that the therapy also assists with muscular development and managing hypoglycemia.

Eponym

It is named for Henry Silver and Alexander Russell.^[7]^[8]^[9]

References

^ Bartholdi D, Krajewska-Walasek M, Ounap K et al. (March 2009). "Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes". J. Med. Genet. 46 (3): 192–7. doi:10.1136/jmg.2008.061820. PMID 19066168.
^ "Silver-Russell Syndrome; SRS". OMIM.
^ Butler, Merlin G. (October 2009). "Genomic imprinting disorders in humans: a mini-review". Journal of Assisted Reproductive Genetics 26 (9-10): 477–486. doi:10.1007/s10815-009-9353-3. PMC 2788689. PMID 19844787. Retrieved 2012-05-30.
^ ^a ^b "Russell-Silver Syndrome". patient.co.uk.
^ Rakover Y, Dietsch S, Ambler GR, Chock C, Thomsett M, Cowell CT (1996). "Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand Growth database (OZGROW)". Eur. J. Pediatr. 155 (10): 851–7. doi:10.1007/BF02282833. PMID 8891553.
^ Child Growth Foundation Russell Silver Syndrome
^ synd/2892 at Who Named It?
^ Russell A (1954). "A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples)". Proc. R. Soc. Med. 47 (12): 1040–4. PMC 1919148. PMID 13237189.
^ Silver HK, Kiyasu W, George J, Deamer WC (1953). "Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins". Pediatrics 12 (4): 368–76. PMID 13099907.

External links

Russell-Silver Support.Org
GeneReviews/NCBI/NIH/UW entry on Russell-Silver Syndrome
Russell-Silver Syndrome Support - www.rss-support.nl
http://www.facebook.com/groups/rss.people/#!/groups/rss.people/ (TARSS, Group for teens and adults with Russell Silver Syndrome)
"Russell Silver Syndrome (RSS)". Child Growth Foundation.
The MAGIC Foundation, RSS Division

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 低身長の原因 causes of short stature
2. 低身長に対する診断的アプローチ diagnostic approach to short stature
3. 妊娠期間に比して小さい新生児 small for gestational age infant
4. 生殖補助医療施行後の妊娠転帰 pregnancy outcome after assisted reproductive technology
5. 色素細胞性母斑（ほくろ）以外の良性色素性皮膚病変 benign pigmented skin lesions other than melanocytic nevi moles

English Journal

Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes.

Court F, Martin-Trujillo A, Romanelli V, Garin I, Iglesias-Platas I, Salafsky I, Guitart M, Perez de Nanclares G, Lapunzina P, Monk D.SourceImprinting and Cancer Group, Cancer Epigenetics and Biology Program (PEBC), Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Human mutation.Hum Mutat.2013 Apr;34(4):595-602. doi: 10.1002/humu.22276. Epub 2013 Feb 19.
Genomic imprinting is the parent-of-origin-specific allelic transcriptional silencing observed in mammals, which is governed by DNA methylation established in the gametes and maintained throughout the development. The frequency and extent of epimutations associated with the nine reported imprinting
PMID 23335487

Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.

Gurrieri F, Zollino M, Oliva A, Pascali V, Orteschi D, Pietrobono R, Camporeale A, Coll Vidal M, Partemi S, Brugada R, Bellocci F, Neri G.SourceIstituto di Genetica Medica, Università Cattolica S. Cuore, Roma, Italy.
European journal of human genetics : EJHG.Eur J Hum Genet.2013 Mar 20. doi: 10.1038/ejhg.2012.280. [Epub ahead of print]
We report on a young woman admitted to our Cardiology Unit because of an episode of cardiac arrest related to a long-QT syndrome (LQTS). This manifestation was part of a broader phenotype, which was recognized as a mild form of Beckwith-Wiedemann syndrome (BWS). Molecular analysis confirmed the diag
PMID 23511928

Japanese Journal

基礎と臨床成長ホルモン分泌不全を来し,H19-DMRの低メチル化を認めたSilver-Russell症候群の1例

勝島由利子,山澤一樹,緒方勤 [他]
ホルモンと臨床 58(3), 259-264, 2010-03-00
NAID 40018730096

シルバーラッセル症候群における分子遺伝学的および臨床学的所見とその相関 (特集小児内分泌学の進歩2009)

山澤一樹,緒方勤
ホルモンと臨床 57(12), 993-1000, 2009-12-00
NAID 40017371604

Related Pictures

★リンクテーブル★

リンク元	「Silver-Russell症候群」「シルバー・ラッセル症候群」
関連記事	「silver」「Russell」「syndrome」

「Silver-Russell症候群」

Russell-Silver syndrome
Classification and external resources
ICD-10	Q87.1 (ILDS Q87.114)
ICD-9	759.89
OMIM	180860
DiseasesDB	11748
MedlinePlus	001209
eMedicine	ped/2099
GeneReviews	Russell-Silver Syndrome;