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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
NS
Male Turner syndrome
Turner phenotype with normal karyotype
Pterygium colli syndrome
Definitions
Genetically heterogeneous syndrome characterized by congenital heart defects, webbed neck, pectus deformity of chest, short stature, characteristic facial appearance, and in males, cryptorchidism
Caused by activating mutations in RAS-MAPK signaling pathway (RASopathy)
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Aoki Y et al: Recent advances in RASopathies. J Hum Genet. 61(1)33-9, 2015
Ekvall S et al: Mutation in NRAS in familial Noonan syndrome - case report and review of the literature. BMC Med Genet. 16(1):95, 2015
Gelb BD et al: Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol. 39(1):13-19, 2015
Hernández-Porras I et al: The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I). Rare Dis. 3(1):e1045169, 2015
Kneitel AW et al: A Novel Mutation on RAF1 in Association with Fetal Findings Suggestive of Noonan Syndrome. Fetal Pediatr Pathol. 34(6):361-4, 2015
Lee PA et al: Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy: longitudinal analysis of growth-hormone-naïve patients enrolled in the NordiNet® International Outcome Study and the ANSWER Program. Int J Pediatr Endocrinol. 2015(1):17, 2015
McWilliams GD et al: Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy. Am J Med Genet A. 170(1):195-201, 2015
Nemcikova M et al: A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature. Eur J Pediatr. ePub, 2015
Zavras N et al: Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency. Ital J Pediatr. 41:71, 2015
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
NS
Male Turner syndrome
Turner phenotype with normal karyotype
Pterygium colli syndrome
Definitions
Genetically heterogeneous syndrome characterized by congenital heart defects, webbed neck, pectus deformity of chest, short stature, characteristic facial appearance, and in males, cryptorchidism
Caused by activating mutations in RAS-MAPK signaling pathway (RASopathy)
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Aoki Y et al: Recent advances in RASopathies. J Hum Genet. 61(1)33-9, 2015
Ekvall S et al: Mutation in NRAS in familial Noonan syndrome - case report and review of the literature. BMC Med Genet. 16(1):95, 2015
Gelb BD et al: Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol. 39(1):13-19, 2015
Hernández-Porras I et al: The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I). Rare Dis. 3(1):e1045169, 2015
Kneitel AW et al: A Novel Mutation on RAF1 in Association with Fetal Findings Suggestive of Noonan Syndrome. Fetal Pediatr Pathol. 34(6):361-4, 2015
Lee PA et al: Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy: longitudinal analysis of growth-hormone-naïve patients enrolled in the NordiNet® International Outcome Study and the ANSWER Program. Int J Pediatr Endocrinol. 2015(1):17, 2015
McWilliams GD et al: Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy. Am J Med Genet A. 170(1):195-201, 2015
Nemcikova M et al: A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature. Eur J Pediatr. ePub, 2015
Zavras N et al: Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency. Ital J Pediatr. 41:71, 2015
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