Noonan Syndrome: Introduction and Basic Clinical Features

2009 ◽  
Vol 72 (2) ◽  
pp. 3-7 ◽  
Author(s):  
T. Rohrer
Keyword(s):  
Clinical Features ◽  
Noonan Syndrome

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines

PEDIATRICS ◽  
2010 ◽  
Vol 126 (4) ◽  
pp. 746-759 ◽  
Author(s):  
A. A. Romano ◽  
J. E. Allanson ◽  
J. Dahlgren ◽  
B. D. Gelb ◽  
B. Hall ◽  
...  
Keyword(s):  
Clinical Features ◽  
Noonan Syndrome ◽  
Management Guidelines ◽  
Diagnosis And Management

Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?

2021 ◽  
pp. 104382
Author(s):  
A.S. van der Werf - ’t Lam ◽  
A. van Haeringen ◽  
T. Rinnen ◽  
R.M. Robles de Medina ◽  
A. Wilde ◽  
...  
Keyword(s):  
Clinical Features ◽  
Noonan Syndrome

Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11

2017 ◽  
Vol 97 ◽  
pp. 228-234 ◽  
Author(s):  
Josephine W.I. van Nierop ◽  
Dorothée C. van Trier ◽  
Ineke van der Burgt ◽  
Jos M.T. Draaisma ◽  
Emmanuel A.M. Mylanus ◽  
...  
Keyword(s):  
Clinical Features ◽  
Cochlear Implantation ◽  
Noonan Syndrome ◽  
Multiple Lentigines

scholarly journals 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

2016 ◽  
Vol 39 (3) ◽  
pp. 349-357 ◽  
Author(s):  
Natália Duarte Linhares ◽  
Maíra Cristina Menezes Freire ◽  
Raony Guimarães Corrêa do Carmo Lisboa Cardenas ◽  
Heloisa Barbosa Pena ◽  
Katherine Lachlan ◽  
...  
Keyword(s):  
Clinical Features ◽  
Noonan Syndrome

scholarly journals Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway

2009 ◽  
Vol 71 (4) ◽  
pp. 185-193 ◽  
Author(s):  
Alexander A.L. Jorge ◽  
Alexsandra C. Malaquias ◽  
Ivo J.P. Arnhold ◽  
Berenice B. Mendonca
Keyword(s):  
Clinical Features ◽  
Noonan Syndrome ◽  
Mapk Pathway

scholarly journals Clinical features of Neonatal Cardiomyopathy

2019 ◽  
Vol 2 (3) ◽  
pp. 115-119
Author(s):  
Sakurai K ◽  
Nakano M ◽  
Masumori C ◽  
Mizuno M ◽  
Aso K
Keyword(s):  
Heart Failure ◽  
Heart Transplantation ◽  
Clinical Features ◽  
Noonan Syndrome ◽  
Severe Heart Failure ◽  
Left Ventricular ◽  
Leopard Syndrome ◽  
Cardiac Murmur ◽  
Underlying Diseases

Background: Neonatal cardiomyopathy is a rare disease that ranges from being asymptomatic to abruptly lethal and is not well characterized [1]. We investigated the clinical features of five neonates with cardiomyopathy in our hospital to determine key clinical characteristics. Methods: We retrospectively reviewed the records of five newborns who were diagnosed with cardiomyopathy between January 2000 and December 2018. The primary evaluation included reasons for diagnosis, underlying diseases, therapy, and turning point. Results: Patients with hypertrophic cardiomyopathy (HCM) or left ventricular noncompaction (LVNC) were diagnosed on the basis of cardiac murmur, while the patient with dilated cardiomyopathy (DCM) was diagnosed on the basis of sucking failure. Underlying diseases included Noonan syndrome and LEOPARD syndrome. All patients had received β-blockers, and those with DCM and LVNC were also administered diuretics and angiotensin-converting enzyme inhibitors. The two patients with HCM underwent follow-up as out-patients. One patient with HCM died at 3 years old because of arrhythmia. The patient with DCM died due to heart failure 38 days after birth. The patient with LVNC exhibited severe heart failure after birth, requiring follow-up while considering heart transplantation. Conclusion: Noonan syndrome and LEOPARD syndrome, which is RAS/MAPK-related diseases, should be considered in patients diagnosed HCM. Because heart failure progresses rapidly in patients with neonatal DCM and those with LVNC, planned therapy should include consideration of heart transplantation.

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