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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
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References
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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
