Noonan syndrome genetic counseling: Difference between revisions
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==Genetic Counseling== | ==Genetic Counseling== | ||
===Prior to Conception=== | |||
Noonan syndrome transmission can be variable but most reported cases are due to autosomal dominant inheritance. Preconception genetic counseling should include:<ref name="pmid17222357">{{cite journal| author=van der Burgt I| title=Noonan syndrome. | journal=Orphanet J Rare Dis | year= 2007 | volume= 2 | issue= | pages= 4 | pmid=17222357 | doi=10.1186/1750-1172-2-4 | pmc=PMC1781428 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17222357 }} </ref> | |||
* Detailed review of the family tree for at least three generations, with emphasis on skin and cardiac anomalies, short stature and cognitive and intellectual difficulties. | |||
* Complete clinical examination of parents with detailed workup including an ECG and an echocardiogram. | |||
===During Pregnancy=== | |||
* If antenatal diagnosis of Noonan syndrome is considered, counseling of the parents is essential before the child is born and includes: | |||
* Explaining the mechanism of occurence on Noonan syndrome and the familial risk of genetic transmission. | |||
* Reviewing the major manifestations and natural history of the disorder with special emphasis on its variability and unpredictability. | |||
* Discussing required tests to confirm the diagnosis, including the proper work-up to be performed when the child is born | |||
* Reviewing the available treatments and long-term management plans. | |||
* Discussing available options for the care and follow-up of the child.<ref name="pmid17222357">{{cite journal| author=van der Burgt I| title=Noonan syndrome. | journal=Orphanet J Rare Dis | year= 2007 | volume= 2 | issue= | pages= 4 | pmid=17222357 | doi=10.1186/1750-1172-2-4 | pmc=PMC1781428 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17222357 }} </ref><ref name="pmid18505544">{{cite journal| author=Sarkozy A, Digilio MC, Dallapiccola B| title=Leopard syndrome. | journal=Orphanet J Rare Dis | year= 2008 | volume= 3 | issue= | pages= 13 | pmid=18505544 | doi=10.1186/1750-1172-3-13 | pmc=PMC2467408 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18505544 }} </ref> | |||
==References== | ==References== | ||
Revision as of 01:29, 15 November 2013
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Noonan syndrome Microchapters |
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Noonan syndrome genetic counseling On the Web |
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American Roentgen Ray Society Images of Noonan syndrome genetic counseling |
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Risk calculators and risk factors for Noonan syndrome genetic counseling |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian
Overview
Genetic Counseling
Prior to Conception
Noonan syndrome transmission can be variable but most reported cases are due to autosomal dominant inheritance. Preconception genetic counseling should include:[1]
- Detailed review of the family tree for at least three generations, with emphasis on skin and cardiac anomalies, short stature and cognitive and intellectual difficulties.
- Complete clinical examination of parents with detailed workup including an ECG and an echocardiogram.
During Pregnancy
- If antenatal diagnosis of Noonan syndrome is considered, counseling of the parents is essential before the child is born and includes:
- Explaining the mechanism of occurence on Noonan syndrome and the familial risk of genetic transmission.
- Reviewing the major manifestations and natural history of the disorder with special emphasis on its variability and unpredictability.
- Discussing required tests to confirm the diagnosis, including the proper work-up to be performed when the child is born
- Reviewing the available treatments and long-term management plans.
References
- ↑ 1.0 1.1 van der Burgt I (2007). "Noonan syndrome". Orphanet J Rare Dis. 2: 4. doi:10.1186/1750-1172-2-4. PMC 1781428. PMID 17222357.
- ↑ Sarkozy A, Digilio MC, Dallapiccola B (2008). "Leopard syndrome". Orphanet J Rare Dis. 3: 13. doi:10.1186/1750-1172-3-13. PMC 2467408. PMID 18505544.
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