- General anesthesia with a transcutaneous pacemaker for a Noonan syndrome patient with advanced atrioventricular block discovered in the remote period after open-heart surgery: a case report
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Ishikawa E, Shibuya M, Yokoyama A, Hojo T, Kimura Y, Fujisawa T
- KMID: 2541481
- J Dent Anesth Pain Med.
- 2023 Apr;23(2):111-116.
- doi: 10.17245/jdapm.2023.23.2.111
We provided general anesthesia management to a patient with advanced atrioventricular block, which was discovered in the remote period after open-heart surgery. A 21-year-old man with Noonan syndrome was scheduled... -
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- Effectiveness of growth hormone therapy in children with Noonan syndrome
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Seok Em, Park HK, Rho JG, Kum CD, Lee HS, Hwang JS
- KMID: 2507561
- Ann Pediatr Endocrinol Metab.
- 2020 Sep;25(3):182-186.
- doi: 10.6065/apem.1938154.077
Purpose: Recombinant human growth hormone (rhGH) has been used to improve growth in children with Noonan syndrome (NS). This study aimed to investigate the efficacy of rhGH therapy in Korean... -
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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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- Noonan syndrome and RASopathies: Clinical features, diagnosis and management
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Lee BH, Yoo HW
- KMID: 2451619
- J Genet Med.
- 2019 Jun;16(1):1-9.
- doi: 10.5734/JGM.2019.16.1.1
Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and... -
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- Case Series Outcomes of Cochlear Implantation in Children with Noonan Syndrome
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Chang YS, Ahn J, Hong SH, Kim EY, Chung WH, Cho YS, Moon IJ
- KMID: 2448114
- Korean J Otorhinolaryngol-Head Neck Surg.
- 2019 Apr;62(4):216-220.
- doi: 10.3342/kjorl-hns.2018.00514
BACKGROUND AND OBJECTIVES: Hearing loss is a common complication associated with Noonan syndrome (NS), and the level of hearing loss for NS patients with sensorineural loss ranged from normal to... -
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- Growth hormone therapy in patients with Noonan syndrome
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Seo GH, Yoo HW
- KMID: 2432280
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):176-181.
- doi: 10.6065/apem.2018.23.4.176
Noonan syndrome (NS) is an autosomal dominant disorder that involves multiple organ systems, with short stature as the most common presentation (>70%). Possible mechanisms of short stature in NS include... -
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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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- 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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- An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing
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Kim J, Cho SY, Yang A, Jang JH, Choi Y, Lee JE, Jin DK
- KMID: 2396141
- Ann Pediatr Endocrinol Metab.
- 2017 Sep;22(3):203-207.
- doi: 10.6065/apem.2017.22.3.203
Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals... -
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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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- Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome
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Jeong I, Kang E, Cho JH, Kim GH, Lee BH, Choi JH, Yoo HW
- KMID: 2161303
- Ann Pediatr Endocrinol Metab.
- 2016 Mar;21(1):26-30.
- doi: 10.6065/apem.2016.21.1.26
PURPOSE: Noonan syndrome (NS) is characterized by short stature, heart anomalies, developmental delays, dysmorphic features, cryptorchidism, and coagulation defects. Several studies reported the short-term effects of recombinant human growth hormone... -
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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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- 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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- A Case of Non-Immune Hydrops Fetalis due to Umbilical Venous Malformation and Noonan Syndrome
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Yun N, Kim JS, Lee J, Shin SH, Ko JM, Kim EK, Kim HS, Choi JH
- KMID: 2072307
- Korean J Perinatol.
- 2013 Dec;24(4):300-305.
- doi: 10.14734/kjp.2013.24.4.300
Anomalies of the fetal venous system are rare. Major portion of fetal venous anomalies are malformation of umbilical vein and ductus venosus. Abnormal umbilico-systemic shunt, bypassing the ductus venosus makes... -
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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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- 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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- Efficacy of Growth Hormone Treatment in Patients with Noonan syndrome and Growth Hormone Deficiency
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Lee S, Kwon AR, Chae HW, Kim HS
- KMID: 2384067
- J Korean Soc Pediatr Endocrinol.
- 2011 Aug;16(2):100-105.
PURPOSE: Noonan syndrome (NS) is characterized by short stature, congenital heart defects, mild mental retardation, and characteristic faces. We investigated the efficacy of growth hormone (GH) treatment and the adverse... -
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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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- 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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- 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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