Noonan syndrome overview: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Noonan syndrome}} | {{Noonan syndrome}} | ||
{{CMG}}; {{AE}} {{AO}} | {{CMG}}; {{AE}} [[User:Sergekorjian|Serge Korjian]], [[User:YazanDaaboul|Yazan Daaboul]], {{AO}} | ||
==Overview== | ==Overview== | ||
Noonan Syndrome (NS) is a relatively common [[congenital]] genetic condition which affects both males and females. It used to be referred to as the male version of [[Turner's syndrome]];<ref>{{cite journal |author=Curcić-Stojković O, Nikolić L, Obradović D, Krstić A, Radić A |title=[Noonan's syndrome. (Male Turner's syndrome, Turner-like syndrome)] |journal=Med Pregl |volume=31 |issue=7-8 |pages=299–303 |year=1978 |pmid=692497}}</ref> however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features include congenital heart malformation, short stature, learning problems, indentation of the chest, impaired blood clotting, and a characteristic configuration of facial features. The syndrome is named after Dr Jacqueline Noonan. | Noonan Syndrome (NS) is a relatively common [[congenital]] genetic condition which affects both males and females. It used to be referred to as the male version of [[Turner's syndrome]];<ref>{{cite journal |author=Curcić-Stojković O, Nikolić L, Obradović D, Krstić A, Radić A |title=[Noonan's syndrome. (Male Turner's syndrome, Turner-like syndrome)] |journal=Med Pregl |volume=31 |issue=7-8 |pages=299–303 |year=1978 |pmid=692497}}</ref> however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features include congenital heart malformation, short stature, learning problems, indentation of the chest, impaired blood clotting, and a characteristic configuration of facial features. The syndrome is named after Dr Jacqueline Noonan. | ||
It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to [[Down syndrome]]. However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age. | It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to [[Down syndrome]]. However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age.<ref name="pmid3895929">{{cite journal| author=Mendez HM, Opitz JM| title=Noonan syndrome: a review. | journal=Am J Med Genet | year= 1985 | volume= 21 | issue= 3 | pages= 493-506 | pmid=3895929 | doi=10.1002/ajmg.1320210312 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3895929 }} </ref> | ||
==References== | ==References== | ||
Latest revision as of 02:14, 15 November 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian, Yazan Daaboul, Ayokunle Olubaniyi, M.B,B.S [2]
Overview
Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. It used to be referred to as the male version of Turner's syndrome;[1] however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features include congenital heart malformation, short stature, learning problems, indentation of the chest, impaired blood clotting, and a characteristic configuration of facial features. The syndrome is named after Dr Jacqueline Noonan.
It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome. However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age.[2]
References
- ↑ Curcić-Stojković O, Nikolić L, Obradović D, Krstić A, Radić A (1978). "[Noonan's syndrome. (Male Turner's syndrome, Turner-like syndrome)]". Med Pregl. 31 (7–8): 299–303. PMID 692497.
- ↑ Mendez HM, Opitz JM (1985). "Noonan syndrome: a review". Am J Med Genet. 21 (3): 493–506. doi:10.1002/ajmg.1320210312. PMID 3895929.
Template:Phakomatoses and other congenital malformations not elsewhere classified