- A Case of Noonan Syndrome Combined with Infundibular Pulmonic Stenosis
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Moon KW, Park JH, Yoo KD, Park JW, Youn HJ, Chung WS, Kim JH, Choi GB, Hong SJ, Lee SH, Kwak MS
- KMID: 2228948
- Korean Circ J.
- 1996 Apr;26(2):586-592.
- doi: 10.4070/kcj.1996.26.2.586
The Noonan syndrome is a rate clinical syndrome associated with similar congenital abnormalities, that is characteristics of Turner syndrome, such as short stature, webbed neck, low posterior hairline, cubitus valgus,... -
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- Familial Noonan Syndrome Confirmed by PTPN11 Gene Test
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Kim YS, Lee ST, Ki CS, Park MJ
- KMID: 2321966
- J Korean Soc Pediatr Endocrinol.
- 2008 Jun;13(1):117-121.
Noonan syndrome is characterized by short stature, mental retardation, typical facial morphology, webbed neck and congenital heart disease. Noonan syndrome can be inherited in an autosomal dominant manner but all... -
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- Anesthetic Management of a Patient with Noonan Syndrome: A case report
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Kim MS, Cho JE, Kil HK
- KMID: 2239908
- Korean J Anesthesiol.
- 2006 Jul;51(1):120-123.
- doi: 10.4097/kjae.2006.51.1.120
Noonan syndrome is featured by short stature, mental retardation, facial dysmorphia, webbed neck, and heart defects. The phenotype has some similarities with Turner syndrome, but the karyotype is normal and... -
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- A Case of Congenital Pulmonary Lymphangiectasia in Noonan Syndrome
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Lee DH, Kim WB, Choi JH, Lee SN
- KMID: 1554058
- J Korean Pediatr Soc.
- 1997 Jun;40(6):877-882.
Congenital pulmonary lymphangiectasia is a rare and perphaps underestimated cause of fatal respiratory distress in the neonate or infant. Pathologically, this condition is characterized by wide lymphatic channels in the... -
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- Noonan Syndrome Confirmed to KRAS Gene Mutation: A Case of KRAS Gene Mutation
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Kim SW, Park SE, Jeong IH, Yoon JW, Lee CA, Jeon JH
- KMID: 2099216
- J Korean Soc Neonatol.
- 2011 Nov;18(2):374-378.
- doi: 10.5385/jksn.2011.18.2.374
Noonan syndrome is an autosomal dominant disorder characterized by typical facial features, congenital heart disease, and short stature. Diagnosis is difficult only with clinical symptoms and it is recently confirmed... -
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- A Case of Noonan Syndrome
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Nam YS, Kim IK, Lee SH, Kwak IP, Yoon TK, Cha KY
- KMID: 2075730
- Korean J Obstet Gynecol.
- 1999 Apr;42(4):887-890.
Noonan syndrome is featured by short stature, mental retardation, hypertelorism, epicanthal folds, dental malocclusion, pectus excavatum and congenital heart disease[mainly ventricular septal defects and pulmonary stenosis]. The phenotype has some... -
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- The Experience of the Total Intravenous Anesthesia of Patient with Noonan Syndrome: A case report
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Lee J, Yoon H, Lee J, Chung W, Hwang J
- KMID: 2299190
- Korean J Anesthesiol.
- 2007 Jun;52(6):S82-S85.
- doi: 10.4097/kjae.2007.52.6.S82
Noonan syndrome is a condition involving facial, cardiovascular and skeletal abnormalities that may pose problems to anesthesiologists during surgery. Propofol, which is used as an induction agent for noncardiac surgery,... -
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- A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)
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Kim SK, Jung SY, Bae SP, Kim J, Lee J, Lee DH
- KMID: 2470103
- J Genet Med.
- 2019 Dec;16(2):81-84.
- doi: 10.5734/JGM.2019.16.2.81
Clinicians often have difficulties diagnosing patients with subtle phenotypes of Noonan syndrome phenotypes. Facial recognition technology can help in the identification of several genetic syndromes with facial dysmorphic features, especially... -
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- Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome
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Lee MJ, Kim BY, Ma JS, Choi YE, Kim YO, Cho HJ, Kim CJ
- KMID: 2362270
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S112-S115.
- doi: 10.3345/kjp.2016.59.11.S112
Noonan syndrome is an autosomal dominant, multisystem disorder. Autoimmune thyroiditis with hypothyroidism is an infrequent feature in patients with Noonan syndrome. A 16-year-old boy was admitted because of chest discomfort... -
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- A Case of Noonan Syndrome Presenting with Malignant Hypertension in an Adult
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Eom MY, Kim WJ, Kim KH, Kim YN, Choi W, Jung YL, Cho HA
- KMID: 2268976
- Korean J Med.
- 2015 Oct;89(4):433-438.
- doi: 10.3904/kjm.2015.89.4.433
Noonan syndrome is an autosomal dominant disorder characterized by dysmorphic facial features, congenital heart defects and short stature. To date, renal artery stenosis has not been associated with Noonan syndrome.... -
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- Oral Features in a Child with Noonan Syndrome : A Case Report
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Hwang I, Lee Y, Sim D, Mah Y
- KMID: 2430322
- J Korean Acad Pediatr Dent.
- 2018 Feb;45(1):115-122.
- doi: 10.5933/JKAPD.2018.45.1.115
Noonan syndrome is characterized by distinctive facial features, short stature, and congenital heart disease. It is a congenital genetic disorder with a prevalence of between 1/1,000 and 1/2,500 in both... -
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- Noonan Syndrome with Double-Chambered Right Ventricle and Atrial Septal Defect: 1 Case Report
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Park YW, Lee SY, Jeong YS, Yum W
- KMID: 2289050
- Korean J Thorac Cardiovasc Surg.
- 2000 May;33(5):419-421.
Noonan syndrome is characterized by typical facies, congenital heart defect, and some clinical features similar to Turner syndrome, but with normal chromosomes. The most commonly associated cardiac defects are pulmonary valvular stenosis... -
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- Correlation between genetic heterogeneity and variability for response to growth hormone in Noonan syndrome
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Shin YL
- KMID: 2465642
- Korean J Pediatr.
- 2019 Nov;62(11):412-413.
- doi: 10.3345/kjp.2019.00220
No abstract available. -
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- A Case of Cardiofaciocutaneous Syndrome caused by BRAF gene mutation
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Lee BH, Kim JM, Lee JJ, Kim GH, Yoo HW
- KMID: 2244896
- J Genet Med.
- 2009 Jun;6(1):87-90.
Cardiofaciocutaneous (CFC) syndrome is characterized by dysmorphic features, cardiac anomalies, and cutaneous abnormalities. CFC syndrome belongs to the class of Noonan-related diseases. CFC syndrome can be clinically differentiated from other... -
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- Corrective Surgery of Congenital Cardiac Anomalies in the Noonan syndrome: Report of two cases
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Lee SH, Lee JH, Sim SB, Park JK, Kwack MS, Kim SW, Oh YS, Youn HJ, Chung WS, Hong SJ
- KMID: 1915724
- Korean J Thorac Cardiovasc Surg.
- 2001 Jul;34(7):552-555.
Noonan syndrome is characterized by a Turner-like phenotype and a normal karyotype associated with congenital abnormalities, such as short stature, variable mental retardation, hypertelorism, webbed neck, low posterior hair line,... -
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- A Case of One Stage Correction of Pterygium Colli and Ptosis with Epicnathal Fold in Pediatric Ullrich-Noonan Syndrome
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Lee SJ, Lim SY, Mun GH, Hyon WS, Bang SI, Oh KS
- KMID: 1564628
- J Korean Cleft Palate-Craniofac Assoc.
- 2005 Oct;6(2):136-138.
Ullrich-Noonan syndrome was first recognized as a unique entity in 1963 when Noonan and Ehmke described a series of patients with unusual faces and multiple malformations. These patients proved to... -
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- A Case Report of Noonan Syndrome with Mental Retardation and Attention-Deficit Hyperactivity Disorder
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Kim WW, Shim SH
- KMID: 2291659
- J Korean Acad Child Adolesc Psychiatry.
- 2012 Mar;23(1):31-35.
Noonan syndrome is characterized by short stature, typical facial dysmorphology, and congenital heart defects. The main facial features of Noonan syndrome are hypertelorism with down-slanting palpebral fissures, ptosis, and low-set... -
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- Development of disease-specific growth charts in Turner syndrome and Noonan syndrome
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Isojima T, Yokoya S
- KMID: 2400780
- Ann Pediatr Endocrinol Metab.
- 2017 Dec;22(4):240-246.
- doi: 10.6065/apem.2017.22.4.240
Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations,... -
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- Genetic Syndromes associated with Congenital Heart Disease
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Ko JM
- KMID: 2223797
- Korean Circ J.
- 2015 Sep;45(5):357-361.
- doi: 10.4070/kcj.2015.45.5.357
Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently... -
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- Clinical Characteristics and Growth Responses to GH Therapy in Children with Noonan Syndrome
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Hwang IT, Shin CH, Yang SW
- KMID: 1515004
- J Korean Soc Pediatr Endocrinol.
- 2003 Dec;8(2):149-155.
PURPOSE:Noonan syndrome(NS) is characterized by short stature, congenital heart disease, and typical facies. Recombinant human growth hormone(GH) has been reported to improve growth rate in a similar fashion to that... -
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