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Page 1
Noonan syndrome: clinical features, diagnosis, and management guidelines.
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Romano AA, et al. Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. Epub 2010 Sep 27. Pediatrics. 2010. PMID: 20876176 Review.
Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. ...The Noonan Syndrome Support Group ( …
Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial featu …
Dermatological manifestations, management, and care in RASopathies.
Kavamura MI, Leoni C, Neri G. Kavamura MI, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):452-458. doi: 10.1002/ajmg.c.32027. Epub 2022 Dec 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 36541891 Review.
Skin and adnexal lesions are the cardinal clinical signs of RASopathies, such as cardiofaciocutaneous syndrome, Noonan syndrome with multiple lentigines, formerly known as LEOPARD syndrome, Costello syndrome, neurofibromatosis (NF1), Legius s …
Skin and adnexal lesions are the cardinal clinical signs of RASopathies, such as cardiofaciocutaneous syndrome, Noonan synd …
New prospectives on treatment opportunities in RASopathies.
Gelb BD, Yohe ME, Wolf C, Andelfinger G. Gelb BD, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):541-560. doi: 10.1002/ajmg.c.32024. Epub 2022 Dec 19. Am J Med Genet C Semin Med Genet. 2022. PMID: 36533679 Free PMC article. Review.
The RASopathies are a group of clinically defined developmental syndromes caused by germline variants of the RAS/mitogen-activated protein (MAPK) cascade. The prototypic RASopathy is Noonan syndrome, which has phenotypic overlap with related disorders such as cardio …
The RASopathies are a group of clinically defined developmental syndromes caused by germline variants of the RAS/mitogen-activated protein ( …
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA. Pierpont ME, et al. Pediatrics. 2014 Oct;134(4):e1149-62. doi: 10.1542/peds.2013-3189. Epub 2014 Sep 1. Pediatrics. 2014. PMID: 25180280 Free PMC article. Review.
Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. ...Experts in multiple medical specialties provided …
Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes …
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.
Onesimo R, Giorgio V, Viscogliosi G, Sforza E, Kuczynska E, Margiotta G, Iademarco M, Proli F, Rigante D, Zampino G, Leoni C. Onesimo R, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):478-493. doi: 10.1002/ajmg.c.32019. Epub 2022 Dec 14. Am J Med Genet C Semin Med Genet. 2022. PMID: 36515923 Review.
Hereby, we describe the main nutritional and gastrointestinal issues reported in individuals with RASopathies, specifically in Noonan syndrome, Noonan syndrome-related disorders, Costello, and cardio-facio-cutaneous syndromes. Fifty percent of children …
Hereby, we describe the main nutritional and gastrointestinal issues reported in individuals with RASopathies, specifically in Noonan …
PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.
Ogata T, Yoshida R. Ogata T, et al. Pediatr Endocrinol Rev. 2005 Jun;2(4):669-74. Pediatr Endocrinol Rev. 2005. PMID: 16208280 Review.
This review summarizes PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutations and genotype-phenotype correlations in Noonan syndrome (NS) and LEOPARD syndrome (LS). PTPN11 mutations have been identified in approximately 40% of NS patients and in …
This review summarizes PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutations and genotype-phenotype correlations in Noonan …
Prenatal diagnosis and postnatal outcome of fetal congenital knee dislocation: systematic review of literature.
Cavoretto PI, Castoldi M, Corbella G, Forte A, Moharamzadeh D, Emedoli D, Candiani M, De Pellegrin M. Cavoretto PI, et al. Ultrasound Obstet Gynecol. 2023 Dec;62(6):778-787. doi: 10.1002/uog.26283. Ultrasound Obstet Gynecol. 2023. PMID: 37289939 Review.
The condition was isolated in 7/20 (35%) cases and associated with other anomalies in 13/20 (65%) cases. An association was observed with oligohydramnios (4/20 (20%)), and an invasive procedure was performed in 13/20 (65%) cases, including 11 cases with an invasive procedu …
The condition was isolated in 7/20 (35%) cases and associated with other anomalies in 13/20 (65%) cases. An association was observed with ol …
Prenatal management and thoracoamniotic shunting in primary fetal pleural effusions: a single centre experience.
Pellegrinelli JM, Kohler A, Kohler M, Weingertner AS, Favre R. Pellegrinelli JM, et al. Prenat Diagn. 2012 May;32(5):467-71. doi: 10.1002/pd.3840. Epub 2012 Apr 13. Prenat Diagn. 2012. PMID: 22499187
RESULTS: Of 41 cases, 23 (56%) were hydropic, and 27 (66%) required shunting. Overall, 2 (4.8%) were diagnosed with a chromosomal condition and 4 (9.6%) with a congenital condition (3 Noonan syndrome, 1 mild structural cardiac defect). ...
RESULTS: Of 41 cases, 23 (56%) were hydropic, and 27 (66%) required shunting. Overall, 2 (4.8%) were diagnosed with a chromosomal con …
The Evaluation of Hematologic Screening and Perioperative Management in Patients with Noonan Syndrome: A Retrospective Chart Review.
Briggs B, Savla D, Ramchandar N, Dimmock D, Le D, Thornburg CD. Briggs B, et al. J Pediatr. 2020 May;220:154-158.e6. doi: 10.1016/j.jpeds.2020.01.048. Epub 2020 Feb 25. J Pediatr. 2020. PMID: 32111381
Surgeries were graded as major or minor. RESULTS: We identified 101 patients with Noonan syndrome, 70 of whom required surgery for a total of 164 procedures. ...The majority of patients had either no or incomplete evaluation (59 of 101; 58.4%). CONCLUSIONS: W …
Surgeries were graded as major or minor. RESULTS: We identified 101 patients with Noonan syndrome, 70 of whom required surgery …
29 results