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{{DiseaseDisorder infobox |
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{{Infobox disease
Name = Patau syndrome |
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| Name = Patau syndrome
ICD10 = Q91 |
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| Image = Chromosome 13.jpeg
ICD9 = {{ICD9|758.1}} |
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| Caption = [[Chromosome 13]]
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| Width = 131px
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| DiseasesDB = 13373
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| ICD10 = {{ICD10|Q|91|4|q|90}}-{{ICD10|Q|91|7|q|90}}
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| ICD9 = {{ICD9|758.1}}
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| ICDO =
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| OMIM =
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| MedlinePlus = 001660
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<!-- | eMedicineSubj = ped-->
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|eMedicineSubj = article
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|eMedicineTopic = 947706
 
}}
 
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'''Patau syndrome''', also known as '''trisomy 13''', is a [[chromosome|chromosomal]] aberration, a [[disease]] in which a patient has an additional [[chromosome 13 (human)|chromosome 13]] due to a non disjunction of chromosomes during meiosis. Like all non disjunction diseases ([[Down Syndrome]], [[Edward Syndrome]], etc...) the risk of disease in the offspring increases with maternal age at pregnancy.
 
   
Patau syndrome is associated with severe [[mental retardation]], small [[eye]]s that may exhibit a split in the [[Iris (anatomy)|iris]] ([[coloboma]]), a cleft [[hair lip|lip]] and/or [[cleft palate|palate]], weak [[muscle]] tone (hypotonia), an increased risk of heart defects, skeletal abnormalities, and other medical problems. Affected individuals rarely live past infancy because of the life threatening medical problems associated with this condition. Patau syndrome affects approximately 1 in 10,000 live births. The risk of having a child with Patau syndrome increases as a woman gets older.
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'''Patau syndrome''' {{IPAc-en|ˈ|p|æ|t|aʊ}} is a [[syndrome]] caused by a [[chromosome|chromosomal]] abnormality, in which some or all of the [[Cell (biology)|cells]] of the body contain extra genetic material from [[chromosome 13 (human)|chromosome 13]]. This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as '''trisomy 13''' or '''trisomy D'''), or because each cell contains an extra partial copy of the chromosome (i.e., [[Robertsonian translocation]]) or because of [[mosaicism|mosaic]] Patau syndrome. Full trisomy 13 is caused by [[nondisjunction]] of chromosomes during [[meiosis]] (the mosaic form is caused by nondisjunction during [[mitosis]]). The extra genetic material from chromosome 13 disrupts the normal course of development, causing multiple and complex organ defects. Like all [[nondisjunction]] conditions (such as [[Down syndrome]] and [[Edwards syndrome]]), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average.<ref>{{cite web |url=http://www.wrongdiagnosis.com/p/patau_syndrome/prevalence.htm |title=Prevalence and Incidence of Patau syndrome |accessdate=2008-02-17 |date=2008-02-04 |work=Diseases Center-Patau Syndrome |publisher=Adviware Pty Ltd. |quote=mean maternal age for this abnormality is about 31 years}}</ref> Patau syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 live births.<ref>[http://miscarriage.about.com/od/onetimemiscarriages/p/patau.htm About.com > Patau Syndrome (Trisomy 13)] From Krissi Danielsson. Updated June 10, 2009</ref>
   
People with Patau syndrome have additional [[DNA]] from chromosome 13 in some or all of their cells. The extra material disrupts the normal course of development, causing the characteristic features of Patau syndrome.
+
==Causes==
  +
Patau's syndrome is most often the result of [[trisomy]] 13, meaning each cell in the body has three copies of chromosome 13 instead of the usual two. A small percentage of cases occur when only some of the body's cells have an extra copy; such cases are called mosaic Patau.
   
Most cases of Patau syndrome result from [[trisomy]] 13, which means each cell in the body has three copies of chromosome 13 instead of the usual two copies. A small percentage of cases occur when only some of the body's cells have an extra copy of chromosome 13, resulting in a mixed population of cells with a differing number of chromosomes, such cases are called mosaic Patau syndrome.
+
Patau syndrome can also occur when part of chromosome 13 becomes attached to another chromosome (translocated) before or at conception in a [[Robertsonian translocation]]. Affected people have two copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. With a translocation, the person has a partial trisomy for chromosome 13 and often the physical signs of the syndrome differ from the typical Patau syndrome.
   
Patau syndrome can also occur when part of chromosome 13 becomes attached to another chromosome (translocated) before or at conception. Affected people have two copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. With a translocation, the person has a partial trisomy for chromosome 15 and often the physical signs of the syndrome differ from the typical Patau syndrome.
+
Most cases of Patau syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called [[non-disjunction]] can result in reproductive cells with an abnormal number of chromosomes. For example, an [[Ovum|egg]] or [[Spermatozoon|sperm]] cell may gain an extra copy of the chromosome. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 13 in each of the body's cells. [[Mosaicism|Mosaic]] Patau syndrome is also not inherited. It occurs as a random error during cell division early in [[fetal]] development.
   
Most cases of Patau syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 13. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 13 in each of the body's cells.
+
Patau syndrome due to a translocation can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 13. Although they do not have signs of Patau syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition.
   
Mosaic Patau syndrome is also not inherited. It occurs as a random error during cell division early in [[fetal]] development. As a result, some of the body's cells have the usual two copies of chromosome 13, and other cells have three copies of the chromosome.
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==Manifestations and physical findings==
  +
[[File:Patauhand.PNG|thumb|A 37 2/7 week gestational age male infant with Patau syndrome demonstrating [[polydactyly]] ]]
  +
Of those fetuses that do survive to gestation and subsequent birth, common abnormalities may include:
   
Patau syndrome due to a translocation can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 13. Although they do not have signs of Patau syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition.
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* Nervous system
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** [[Mental retardation]] and [[Motor skills disorder|motor disorder]]
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** [[Microcephaly]]
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** [[Holoprosencephaly]] (failure of the forebrain to divide properly).
  +
** Structural eye defects, including [[microphthalmia]], [[Peters anomaly]] (a type of eye abnormality), [[cataract]], iris and/or fundus ([[coloboma]]), retinal dysplasia or [[retinal detachment]], sensory [[Pathologic nystagmus|nystagmus]], [[cortical visual loss]], and [[optic nerve hypoplasia]]
  +
** [[Meningomyelocele]] (a [[Spinal cord|spinal]] defect)
   
==Prognosis==
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* Musculoskeletal and cutaneous
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** [[Polydactyly]] (extra digits)
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** [[Low-set ears]]<ref name="Ostler2004">{{cite book|author=H. Bruce Ostler|title=Diseases of the eye and skin: a color atlas|url=http://books.google.com/?id=jewuK_B-3bcC&pg=PA72|accessdate=13 April 2010|year=2004|publisher=Lippincott Williams & Wilkins|isbn=978-0-7817-4999-2|pages=72}}</ref>
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** Prominent heel
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** Deformed feet known as [[rocker-bottom feet]]
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** [[Omphalocele]] ([[abdomen|abdominal]] defect)
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** Abnormal [[Hand|palm]] pattern
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** Overlapping of fingers over [[thumb]]
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** [[Cutis aplasia]] (missing portion of the skin/hair)
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** [[Cleft palate]]
   
Nearly all trisomy 13 embryos die during pregnancy, of those that do survive 80% die within 1 month of birth and 1% die by 23 years. There is no treatment or cure for the disease.
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* Urogenital
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** Abnormal [[genitalia]]
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** [[Kidney defects]]
   
==Recurrence Risk==
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* Other
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** [[Heart defects]] ([[ventricular septal defect]])
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** [[Single umbilical artery]]<ref name="urlTrisomy 13: MedlinePlus Medical Encyclopedia">{{cite web |url=http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm |title=Trisomy 13: MedlinePlus Medical Encyclopedia |work= |accessdate=2010-04-12}}</ref>
   
Unless one of the parents are carriers of a [[translocation]] the chances of a couple having another trisomy 13 effected child is less than 1% (less than that of Down Syndrome).
+
==Diagnosis==
  +
Diagnosis is usually based on clinical findings, although fetal chromosome testing will show trisomy 13. While many of the physical findings are similar to Edward's syndrome there are a few unique traits, such as polydactyly. However, unlike Edward's syndrome and Down syndrome, the quad screen does not provide a reliable means of screening for this disorder. This is due to the variability of the results seen in fetuses with Patau.<ref>Callahan, Tamara L., and Aaron B. Caughey. [http://books.google.com/books?id=eKC1B3BhlxUC&pg=PA28&lpg=PA28&dq=patau+quad+screen&source=bl&ots=5MF3KmvIuC&sig=t3fGXA6Ojtwx7EOVHqSYtTiSNl8&hl=en&sa=X&ei=ZsnmUYPELfCLyAH4z4CgCw&ved=0CF4Q6AEwBg#v=onepage&q=patau%20quad%20screen&f=false Blueprints Obstetrics & Gynecology]. Baltimore, MD: Lippincott Williams & Wilkins, 2013.</ref>
  +
==Recurrence risk==
  +
  +
Unless one of the parents is a carrier of a [[Chromosomal translocation|translocation]] the chances of a couple having another trisomy 13 affected child is less than 1% (less than that of [[Down syndrome]]).
   
 
==History==
 
==History==
   
Trisomy 13 was first observed by [[Erasmus Bartholin]] in 1657 but the chromosomal nature of the disease was assertained by Dr. Klaus Patau in 1960. The disease is named in his honor.
+
Trisomy 13 was first observed by [[Thomas Bartholin]] in 1657,<ref>{{WhoNamedIt|synd|1024}}</ref> but the chromosomal nature of the disease was ascertained by Dr. [[Klaus Patau]] in 1960.<ref>{{cite journal |author=Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP |title=Multiple congenital anomaly caused by an extra autosome |journal=Lancet |volume=1 |issue= 7128|pages=790–3 |year=1960 |pmid=14430807 |doi=10.1016/S0140-6736(60)90676-0}}</ref> The disease is named in his honor.
  +
  +
In England and Wales during 2008–09 there were 172 diagnoses of Patau's syndrome (trisomy 13), with 91% of diagnoses made prenatally. There were 111 elective abortions, 14 stillbirth/miscarriage/fetal deaths, 30 outcomes unknown, and 17 live births. Approximately 4% of Patau's syndrome with unknown outcomes are likely to result in a live birth, therefore the total number of live births is estimated to be 18.<ref>{{cite web|url=http://www.wolfson.qmul.ac.uk/ndscr/|title=National Down Syndrome Cytogenetic Register Annual Reports 2008/09}}</ref> The small percentage of babies with the full Patau's syndrome who survive birth and early infancy may live to adulthood, and children with mosaic or partial forms of this trisomy may have a completely different and much more hopeful prognosis.{{fact|date=February 2013}}
  +
  +
==Treatment==
  +
Medical management of children with Trisomy 13 is planned on a case-by-case basis and depends on the individual circumstances of the patient. Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex [[heart defects]]. Surgery may be necessary to repair heart defects or [[cleft lip]] and [[cleft palate]]. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential. Surviving children are described as happy and parents report that they enrich their lives.<ref>{{cite journal|last=Janvier|first=Annie|coauthors=Farlow, Wilfond|title=The experience of families with children with trisomy 13 and 18 in social networks.|journal=Pediatrics|date=July 23, 2012|month=Aug|volume=130|issue=2|pages=293–298|doi=10.1542/peds.2012-0151|pmid=22826570|url=http://www.ncbi.nlm.nih.gov/pubmed/22826570}}</ref>
  +
  +
== Prognosis ==
  +
  +
More than 80% of children with Patau syndrome die within the first year of life.<ref name="pubmed health">http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002625/</ref>
  +
  +
==References==
  +
{{reflist|2}}
   
 
==External links==
 
==External links==
*[http://livingwithtrisomy13.org Living with Trisomy 13]
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{{Commons category|Patau syndrome}}
*[http://www.trisomy13survivors.org Trisomy-13-survivors]
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* [http://www.trisomy.org SOFT USA - Support Organization For Trisomy 18, 13 and Related Disorders]
*[http://www.trisomy.org/html/resources.htm SOFT - Support Organisation For Trisomy]
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* [http://www.soft.org.uk SOFT UK Support Organisation for Trisomy 13/18 and related disorders]
*[http://www.trisomie13.de Trisomie 13 Germany]
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* [http://www.livingwithtri13.org Living with Trisomy 13 (Patau Syndrome) - Embracing Life One Moment at a Time]
*[http://groups.msn.com/KiasTrisomy13/kiasbirthlifestory.msnw Kia, *2002]
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* [http://www.trisomy13archive.com Trisomy 13 Archived - 300 Carry-to-Term Family Stories Videos (2005-2010)]
*[http://seanps.''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine]''
+
* [http://video.on.nytimes.com/?fr_story=79cf26acead199fa0a000074e41deda20072c923 "Perinatal Hospice Care - Preparing for birth and death"] at [[The New York Times]]
*[http://www.webmd.com/hw/health_guide_atoz/nord218.asp Trisomy 13]
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* [http://www.trisomie13.de Trisomie 13 Germany], [http://66.163.168.225/babelfish/translate_url_content?lp=de_en&url=http%3A%2F%2Fwww.trisomie13.de%2FKinder%2Fkinder.htm&.intl=us English Translation for Trisomie 13 Germany]
*Duarte, A.C. u.a.: ''Patau syndrome with a long survival. A case report.'' [http://www.funpecrp.com.br/gmr/year2004/vol2-3/gmr0072_full_text.htm]
+
* [http://www.webmd.com/hw/health_guide_atoz/nord218.asp Trisomy 13] at [[WebMD]]
*''Trisomie 13 Facts'' ([http://www.trisomy.org/html/trisomy_13_facts.htm])
+
* [http://www.dallasnews.com/s/dws/photography/2009/thomas/ "Choosing Thomas"] at [[Dallas Morning News]]
*Stetson et al: ''Trisomy 13: A guidebook for families'' (1992 / [http://www.trisomy.org/html/bookstore.htm])
+
*D. Scott Showalter, John C. Carey: ''A guide for professionals'' ([http://www.trisomy.org/info/])
+
{{Chromosomal abnormalities}}
*Ann M. Barnes, John Carey: ''Common problems of babies with trisomy 18 or 13.'' (1998 / auf englisch / [http://www.trisomy.org/html/common_problems.htm])
 
*Barnes, Carey: ''Care of the infant and child with trisomy 18 or 13: medical problems, reported treatments and milestones'' (1996 / [http://www.trisomy.org/html/bookstore.htm])
 
*Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP (1960). Multiple congenital anomaly caused by an extra autosome. ''Lancet'' Apr 9; '''1''':790-3. PMID 14430807.
 
   
[[Category:Congenital genetic disorders]]
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[[Category:Autosomal trisomies]]
[[Category:Eponymous diseases]]
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[[Category:Syndromes]]
   
[[da:Pataus syndrom]]
 
[[de:Pätau-Syndrom]]
 
[[es:Síndrome de Patau]]
 
[[fr:Trisomie 13]]
 
[[it:Sindrome di Patau]]
 
[[pl:Zespół Patau]]
 
[[sr:Патауов синдром]]
 
[[sv:Pataus syndrom]]
 
 
{{enWP|Patau syndrome}}
 
{{enWP|Patau syndrome}}

Latest revision as of 23:43, October 11, 2013

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Patau syndrome
Classification and external resources

Chromosome 13
ICD-10 Q914-Q917
ICD-9 758.1
DiseasesDB 13373
MedlinePlus 001660
eMedicine article/947706

Patau syndrome /ˈpæt/ is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D), or because each cell contains an extra partial copy of the chromosome (i.e., Robertsonian translocation) or because of mosaic Patau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis (the mosaic form is caused by nondisjunction during mitosis). The extra genetic material from chromosome 13 disrupts the normal course of development, causing multiple and complex organ defects. Like all nondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average.[1] Patau syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 live births.[2]

CausesEdit

Patau's syndrome is most often the result of trisomy 13, meaning each cell in the body has three copies of chromosome 13 instead of the usual two. A small percentage of cases occur when only some of the body's cells have an extra copy; such cases are called mosaic Patau.

Patau syndrome can also occur when part of chromosome 13 becomes attached to another chromosome (translocated) before or at conception in a Robertsonian translocation. Affected people have two copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. With a translocation, the person has a partial trisomy for chromosome 13 and often the physical signs of the syndrome differ from the typical Patau syndrome.

Most cases of Patau syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called non-disjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the chromosome. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 13 in each of the body's cells. Mosaic Patau syndrome is also not inherited. It occurs as a random error during cell division early in fetal development.

Patau syndrome due to a translocation can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 13. Although they do not have signs of Patau syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition.

Manifestations and physical findingsEdit

File:Patauhand.PNG

Of those fetuses that do survive to gestation and subsequent birth, common abnormalities may include:

DiagnosisEdit

Diagnosis is usually based on clinical findings, although fetal chromosome testing will show trisomy 13. While many of the physical findings are similar to Edward's syndrome there are a few unique traits, such as polydactyly. However, unlike Edward's syndrome and Down syndrome, the quad screen does not provide a reliable means of screening for this disorder. This is due to the variability of the results seen in fetuses with Patau.[5]

Recurrence riskEdit

Unless one of the parents is a carrier of a translocation the chances of a couple having another trisomy 13 affected child is less than 1% (less than that of Down syndrome).

HistoryEdit

Trisomy 13 was first observed by Thomas Bartholin in 1657,[6] but the chromosomal nature of the disease was ascertained by Dr. Klaus Patau in 1960.[7] The disease is named in his honor.

In England and Wales during 2008–09 there were 172 diagnoses of Patau's syndrome (trisomy 13), with 91% of diagnoses made prenatally. There were 111 elective abortions, 14 stillbirth/miscarriage/fetal deaths, 30 outcomes unknown, and 17 live births. Approximately 4% of Patau's syndrome with unknown outcomes are likely to result in a live birth, therefore the total number of live births is estimated to be 18.[8] The small percentage of babies with the full Patau's syndrome who survive birth and early infancy may live to adulthood, and children with mosaic or partial forms of this trisomy may have a completely different and much more hopeful prognosis.[How to reference and link to summary or text]

TreatmentEdit

Medical management of children with Trisomy 13 is planned on a case-by-case basis and depends on the individual circumstances of the patient. Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects. Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential. Surviving children are described as happy and parents report that they enrich their lives.[9]

Prognosis Edit

More than 80% of children with Patau syndrome die within the first year of life.[10]

ReferencesEdit

  1. Prevalence and Incidence of Patau syndrome. Diseases Center-Patau Syndrome. Adviware Pty Ltd.. URL accessed on 2008-02-17.
  2. About.com > Patau Syndrome (Trisomy 13) From Krissi Danielsson. Updated June 10, 2009
  3. H. Bruce Ostler (2004). Diseases of the eye and skin: a color atlas, 72, Lippincott Williams & Wilkins. URL accessed 13 April 2010.
  4. Trisomy 13: MedlinePlus Medical Encyclopedia. URL accessed on 2010-04-12.
  5. Callahan, Tamara L., and Aaron B. Caughey. Blueprints Obstetrics & Gynecology. Baltimore, MD: Lippincott Williams & Wilkins, 2013.
  6. Who Named It synd/1024
  7. Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP (1960). Multiple congenital anomaly caused by an extra autosome. Lancet 1 (7128): 790–3.
  8. National Down Syndrome Cytogenetic Register Annual Reports 2008/09.
  9. Janvier, Annie, Farlow, Wilfond (July 23, 2012). The experience of families with children with trisomy 13 and 18 in social networks.. Pediatrics 130 (2): 293–298.
  10. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002625/

External linksEdit

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