・ーランド症候群、Poland症候群

WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
a republic in central Europe; the invasion of Poland by Germany in 1939 started World War II (同)Republic of Poland, Polska

PrepTutorEJDIC

(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
ポーランド(ヨーロッパ中部の共和国;首都はWarsaw)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/02/28 19:25:39」(JST)

wiki en

Poland syndrome (also Poland's syndrome, Poland's syndactyly, Poland sequence,^[1] and Poland's anomaly) is a rare birth defect characterized by underdevelopment or absence of the chest muscle (pectoralis) on one side of the body, and usually also webbing of the fingers (cutaneous syndactyly) of the hand on the same side (the ipsilateral hand). In most affected individuals, the missing part is the large section of the muscle that normally attaches to the upper arm on one side and the breastbone (sternum) on the other. Other abnormalities may occur on the affected side of the torso. In some cases, additional muscles in the chest wall, side, and shoulder are missing or underdeveloped. There may also be rib cage abnormalities, such as shortened ribs, and the ribs may be noticeable due to less fat under the skin (subcutaneous fat). Breast and nipple abnormalities may also occur, and underarm (axillary) hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest area do not cause health problems or affect movement.^[2] Poland syndrome most often affects the right side of the body, and occurs more often in males than in females.

It is usually considered a unilateral condition. Some have claimed that the term can be applied in bilateral presentation,^[3] but others recommend using alternate terminology in those cases.^[4]

History

Alfred Poland's original description of the syndrome.

It was first named in 1962 by Patrick Clarkson, a New Zealand-born British plastic surgeon working at Guy's Hospital and Queen Mary's Hospital, London. He noticed that three of his patients had both a hand deformity and an underdeveloped breast on the same side. He discussed this with his colleague at Guy's Hospital, Dr Philip Evans, who agreed that the syndrome was "not widely appreciated". Clarkson found a reference to a similar deformity published by Alfred Poland, over a hundred years earlier in Guy's Hospital reports, in 1841.^[5] Clarkson was able to find the hand specimen dissected by Poland, which was still held in the hospital pathology museum. Poland had dissected a convict called George Elt, who was said to be unable to draw his hand across his chest. Poland noted the chest wall deformity, and this was illustrated in his article; the hand was also dissected and preserved for posterity in Guy's Hospital museum where it remains today. It cannot be truly said that Poland described this syndrome because he only described one isolated case. Clarkson published his series of three cases and named the syndrome after Poland in his article.^[6]

Epidemiology

According to the National Human Genome Research Institute, Poland syndrome affects males three times as often as females and affects the right side of the body twice as often as the left.^[7] The incidence is estimated to range from one in 7,000 to one in 100,000 live births.^[8]

Causes

The cause of Poland syndrome is unknown. However, an interruption of the embryonic blood supply to the arteries that lie under the collarbone (subclavian arteries) at about the 46th day of embryonic development is the prevailing theory.^[9]

The subclavian arteries normally supply blood to embryonic tissues that give rise to the chest wall and hand. Variations in the site and extent of the disruption may explain the range of signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ectodermal ridge, which helps direct early limb development, may also be involved in this disorder.Rare cases of Poland syndrome are thought to be caused by a genetic change that can be passed down in families, but no related genes have been identified.^[10]

Notable cases

British TV presenter Jeremy Beadle (1948–2008) was known for having this condition. His Poland Syndrome manifested itself in the form of his disproportionately small right hand.^[11]

Olympic boxer Jérôme Thomas is also affected by Poland syndrome as his left arm and hand are significantly shorter and smaller than his right. Thomas also lacks a left pectoral muscle.

PGA Tour golfer Bryce Molder has Poland syndrome with an absent left pectoral muscle and a small left hand. Several surgeries in his childhood repaired syndactly on the left hand.^[12]

Fernando Alonso, Formula 1 World Champion. ^[13]^{[citation needed]}

Researchers from the Department of Rehabilitation Medicine at the Yonsei University College of Medicine in Seoul, Korea reported a case of congenital absence of pectoralis major in 1990. According to Kakulas and Adams, pectoralis major is the most frequently congenitally absent muscle. The case involved a 22 year old marine who had asymmetrical configuration of chest wall who had never experienced difficulties performing daily activities, but who experienced difficulties in the military camp. He had difficulty in some training activities especially those such as throwing a grenade or rope climbing. During a surgery performed to correct the sternal depression, it was found that the right pectoralis major was totally absent. However, previous physical exams did not show deficiencies in muscle strength as the right shoulder was good for flexion, adduction, horizontal adduction and internal rotation. Moreover, his pain and touch sensation were normal. X-rays were also performed and showed normal pictures of the chest's bones. The fact that the absence of pectoralis major did not cause functional loss in ordinary activities in this case of congenital absence showed that other surrounding muscles played a compensation role.[10

Clinical features

Example female breasts with Poland syndrome

Very frequent signs

Abnormal gastrointestinal tract
Absent pectoral muscles

Male showing left pectoral absent
Brachydactyly (Short fingers)
Dextrocardia
Diaphragmatic hernia/defect
Humerus absent/abnormal
Liver/biliary tract anomalies
Maternal diabetes
Oligodactyly/missing fingers
Radius absent/abnormal
Rhizomelic micromelia (relatively shorter proximal segment of the limbs compared to the middle and the distal segments)
Sparcity or abnormality of axillary hair on affected side
Syndactyly of fingers (webbing)
Ulna absent/abnormal
Upper limb asymmetry
Abnormal rib
Simian crease on affected side

Frequent signs

Hypoplastic/absent nipples
Scapula anomaly

Occasional signs

Agenesis/hypoplasia of kidneys
Encephalocele/exencephaly
Abnormal morphology of hypothalamic-hypophyseal axis
Abnormal function of hypothalamic-hypophyseal axis
Microcephaly
Preaxial polydactyly
Ureteric anomalies (reflux/duplex system)
Vertebral segmentation anomaly

References

^ Martínez-Frías ML, Czeizel AE, Rodríguez-Pinilla E, Bermejo E (January 1999). "Smoking during pregnancy and Poland sequence: results of a population-based registry and a case-control registry". Teratology 59 (1): 35–8. doi:10.1002/(SICI)1096-9926(199901)59:1<35::AID-TERA8>3.0.CO;2-E. PMID 9988881.
^ "Poland Syndrome". Genetics Home Reference. Retrieved 12 December 2014.
^ Karnak I, Tanyel FC, Tunçbilek E, Unsal M, Büyükpamukçu N (February 1998). "Bilateral Poland anomaly". Am. J. Med. Genet. 75 (5): 505–7. doi:10.1002/(SICI)1096-8628(19980217)75:5<505::AID-AJMG9>3.0.CO;2-L. PMID 9489794.
^ Maroteaux P, Le Merrer M (December 1998). "Bilateral Poland anomaly versus thoracic dysplasia". Am. J. Med. Genet. 80 (5): 538–9. doi:10.1002/(SICI)1096-8628(19981228)80:5<538::AID-AJMG23>3.0.CO;2-S. PMID 9880227.
^ Poland A (1841). "Deficiency of the pectoral muscles". Guy's Hospital Reports VI: 191–193.
^ Clarkson P (1962). "Poland’s syndactyly". Guys Hosp Rep 111: 335–46. PMID 14021589.
^ "Learning about Poland Anomaly". Retrieved 2007-02-09.
^ Fokin A, Robicsek F (2002). "Poland's syndrome revisited". Ann Thorac Surg 74 (6): 2218–25. doi:10.1016/S0003-4975(02)04161-9. PMID 12643435.
^ Poullin P, Toussirot E, Schiano A, Serratrice G (1992). "[Complete and dissociated forms of Poland's syndrome (5 cases)]". Rev Rhum Mal Osteoartic 59 (2): 114–20. PMID 1604222.
^ "Poland Syndrome". Genetics Home Reference. Retrieved 12 December 2014.
^ Burt, Jennifer (1997-10-20). "Jeremy is a role model for children". Leicester (UK) Mercury.
^ http://www.pgatour.com/players/02/38/00/
^ http://imgur.com/a/FWo8C

External links

Poland Syndrome support
PIP-UK Poland Syndrome Support - UK Charity

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. 胸壁疾患 diseases of the chest wall
2. 小児および思春期における乳房疾患の概要 overview of breast disorders in children and adolescents
3. 単一遺伝子性疾患の非メンデル遺伝のパターン non mendelian inheritance patterns of monogenic diseases
4. 小児における身体的診察：胸部および腹部 the pediatric physical examination chest and abdomen
5. 漏斗胸 pectus carinatum

English Journal

Hypoxemia During Bilevel Positive Airway Pressure Treatment in Patients with Obstructive Sleep Apnea Syndrome and Chronic Respiratory Insufficiency.

Brzecka A, Piesiak P, Kosacka M, Jankowska R.SourceDepartment of Pulmonology and Lung Cancer, Medical University in Wroclaw, Grabiszynska 105 St, 53-439, Wroclaw, Poland, aniabrz@box43.pl.
Advances in experimental medicine and biology.Adv Exp Med Biol.2013;755:117-123.
In patients with obstructive sleep apnea (OSA) syndrome and chronic respiratory insufficiency one of the options of treatment is bilevel positive airway pressure (BPAP) during sleep. The aim of the study was to find out what are the factors influencing the early results of BPAP treatment in such OSA
PMID 22826058

Prevalence of metabolic syndrome and insulin resistance in overweight and obese women according to the different diagnostic criteria.

Kocełak P, Chudek J, Olszanecka-Glinianowicz M.SourceHealth Promotion and Obesity Management Unit, Department of Pathophysiology, Medical University of SilesiaKatowice, Poland - pkocelak@sum.edu.pl.
Minerva endocrinologica.Minerva Endocrinol.2012 Sep;37(3):247-54.
AIM: Metabolic syndrome (MS) is a cluster of risk factors favoring the development of type 2 diabetes and cardiovascular diseases. The prevalence of MS diagnosis is dependent of used diagnostic criteria. The aim of the study is to compare the prevalence of MS in overweight and obese women without co
PMID 22766891

Japanese Journal

肩関節周囲の先天性骨欠損・筋欠損が肩関節に及ぼす影響

見目智紀,落合信靖,西須孝,瀬川裕子,森石丈二,三笠元彦
肩関節 = Shoulder joint 34(3), 663-666, 2010-08-04
… Diagnoses were congenital pseudoarthrosis in 3 patients, major defect due to cleidocranial dysplasia in 3 patients, congenital midshaft defect of clavicle in 1 patient, distal defect related to congenital progeroid syndrome in 1 patient, proximal half defect related to Goltz syndrome in 1 patient, congenital sternum defect in 1 patient, total absence of the trapezius in 2 patients, partial absence of trapezius in 1 patient, and Poland syndrome in 7 patients. …
NAID 10027675633

Analysis of Myocardial Infarction Time Course in Women Compared With Men in Upper Silesia Population in 30 Day Follow-Up

Kawecki Damian,Tomasik Andrzej Robert,Morawiec Beata,Jachec Wojciech,Wojciechowska Celina,Rybczyk Renata,Milejski Wojciech,Switalska-Janiczek Izabela,Przywara-Chowaniec Brygida,Nowalany-Kozielska Ewa
International Heart Journal 50(6), 711-721, 2009
… The aim of the study was to compare the course of myocardial infarction in women versus men in Upper Silesia, an industrial region in the south of Poland.The study comprised 1003 patients with either ST-elevation myocardial infarction (STEMI) or non-ST-elevation myocardial infarction (NSTEMI). … Group 1 was characterized by significantly higher mortality and target lesion reocclusion (TLR).The medical course of myocardial infarction in women is similar to that in men, as is the treatment of acute coronary syndrome. …
NAID 130000120854

Related Pictures

★リンクテーブル★

リンク元	「ポーランド症候群」「Poland症候群」
関連記事	「syndrome」

「ポーランド症候群」

Poland syndrome
	Digital mammogram (Mediolateral view) showing absence of the pectoralis major muscle and architectural distortion on the left side and normal right breast
Classification and external resources
ICD-10	Q79.8
ICD-9	756.89
OMIM	173800
DiseasesDB	31679
eMedicine	plastic/132
NCI	Poland syndrome
MeSH	D011045

　　[★]

英: Poland syndrome, Poland's syndrome
関: Poland症候群

概念

wikipedia enより抜粋

Poland syndrome (also Poland's syndrome, Poland's syndactyly, Poland sequence, and Poland's anomaly) is a rare birth defect characterized by underdevelopment or absence of the chest muscle (pectoralis) on one side of the body and (but not always) webbing of the fingers (cutaneous syndactyly) of the hand on the same side (ipsilateral hand) mostly common on the right side of body and found more in males than females.
It is usually considered a unilateral condition. Some have claimed that the term can be applied in bilateral presentation, but others recommend using alternate terminology in those cases.

参考

Poland syndrome - wiki en

http://en.wikipedia.org/wiki/Poland_syndrome

「Poland症候群」

　　[★]

英: Poland syndrome
関: ・ーランド症候群

「syndrome」

　　[★]

n.

症候群

[pmid9988881-1] Martínez-Frías ML, Czeizel AE, Rodríguez-Pinilla E, Bermejo E (January 1999). "Smoking during pregnancy and Poland sequence: results of a population-based registry and a case-control registry". Teratology 59 (1): 35–8. doi:10.1002/(SICI)1096-9926(199901)59:1<35::AID-TERA8>3.0.CO;2-E. PMID 9988881.

[2] "Poland Syndrome". Genetics Home Reference. Retrieved 12 December 2014.

[pmid9489794-3] Karnak I, Tanyel FC, Tunçbilek E, Unsal M, Büyükpamukçu N (February 1998). "Bilateral Poland anomaly". Am. J. Med. Genet. 75 (5): 505–7. doi:10.1002/(SICI)1096-8628(19980217)75:5<505::AID-AJMG9>3.0.CO;2-L. PMID 9489794.

[pmid9880227-4] Maroteaux P, Le Merrer M (December 1998). "Bilateral Poland anomaly versus thoracic dysplasia". Am. J. Med. Genet. 80 (5): 538–9. doi:10.1002/(SICI)1096-8628(19981228)80:5<538::AID-AJMG23>3.0.CO;2-S. PMID 9880227.

[5] Poland A (1841). "Deficiency of the pectoral muscles". Guy's Hospital Reports VI: 191–193.

[6] Clarkson P (1962). "Poland’s syndactyly". Guys Hosp Rep 111: 335–46. PMID 14021589.

[7] "Learning about Poland Anomaly". Retrieved 2007-02-09.

[8] Fokin A, Robicsek F (2002). "Poland's syndrome revisited". Ann Thorac Surg 74 (6): 2218–25. doi:10.1016/S0003-4975(02)04161-9. PMID 12643435.

[9] Poullin P, Toussirot E, Schiano A, Serratrice G (1992). "[Complete and dissociated forms of Poland's syndrome (5 cases)]". Rev Rhum Mal Osteoartic 59 (2): 114–20. PMID 1604222.

[10] "Poland Syndrome". Genetics Home Reference. Retrieved 12 December 2014.

[11] Burt, Jennifer (1997-10-20). "Jeremy is a role model for children". Leicester (UK) Mercury.

[12] ttp://www.pgatour.com/players/02/38/00/

[13] ttp://imgur.com/a/FWo8C

匿名

検索

案内

案内

Poland syndrome