The Noonan syndrome from a paediatric perspective;Het Noonan-syndroom vanuit kindergeneeskundig perspectief

Nederlands Tijdschrift voor Geneeskunde

Volumn 147, Issue 14, 2003, Pages 644-648

  Noordam, C ^a   Thoonen, G ^a   Van Der Burgt, C J A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BEHAVIOR DISORDER; CONGENITAL HEART MALFORMATION; FEEDING DISORDER; GENE MUTATION; HUMAN; LEARNING DISORDER; NOONAN SYNDROME; SHORT STATURE;

BODY HEIGHT; CHILD; DEVELOPMENTAL DISABILITIES; HUMAN GROWTH HORMONE; HUMANS; MUTATION; NOONAN SYNDROME; PHENOTYPE; PROTEIN-TYROSINE-PHOSPHATASE; PUBERTY, DELAYED;

EID: 0037420473     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (29)

1. Noonan JA, Ehmke DA. Associated noncardiac malformations in children with congenital heart disease. J Pediatr 1963;63:468-70.
2. Opitz JM, Summit RL, Sarto GE. Noonan's syndrome in girls: a genocopy of the Ullrich-Turner syndrome. J Pediatr 1965;67:968.
3. Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD. Noonan syndrome: the changing phenotype. Am J Med Genet 1985;21:507-14.
4. Sharland M, Burch M, McKenna WM, Patton MA. A clinical study of Noonan syndrome. Arch Dis Child 1992;67:178-83.
5. Burch M, Sharland M, Shinebourne E, Smith G, Patton MA, McKenna W. Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol 1993;22:1189-92.
6. Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B. Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 1999;135:703-6.
7. Noonan JA. Noonan syndrome. An update and review for the primary pediatrician. Clin Pediatr (Phila) 1994;33:548-55.
8. Wilmshurst PT, Katritsis D. Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: the overlap syndromes. Heart 1996;75:94-7.
9. Allanson JE. Noonan syndrome. J Med Genet 1987;24:9-13.
10. Duncan WJ, Fowler RS, Farkas LG, Ross RB, Wright AW, Bloom KR, et al. A comprehensive scoring system for evaluating Noonan syndrome. Am J Med Genet 1981;10:37-50.
11. Burgt I van der, Berends E, Lommen E, Beersum S van, Hamel B, Mariman E. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 1994;53:187-91.
12. Jamieson CR, Burgt I van der, Brady AF, Reen M van, Elsawi MM, Hol F, et al. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 1994;8:357-60.
13. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001;29:465-8.
14. Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, Burgt I van der, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002;70:1555-63.
15. Nora JJ, Nora AH, Sinha AK, Spangler RD, Lubs HA. The Ullrich-Noonan syndrome (Turner phenotype). Am J Dis Child 1974;127:48-55.
16. Mendez HM, Opitz JM. Noonan syndrome: a review. Am J Med Genet 1985;21:493-506.
17. Char F, Rodriguez-Fernandez HL, Scott CI. The Noonan syndrome: a clinical study of forty-five cases. Birth Defects Orig Artie Ser 1972;8:110-8.
18. Ranke MB, Heidemann P, Knupfer C, Enders H, Schmaltz AA, Bierich JR. Noonan syndrome: growth and clinical manifestations in 144 cases. Eur J Pediatr 1988;148:220-7.
19. Witt DR, Hoyme HE, Zonana J, Manchester DK, Fryns JP, Stevenson JG, et al. Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature. Am J Med Genet 1987;27:841-56.
20. Noordam C, Burgt I van der, Sweep CG, Delemarre-van de Waal HA, Sengers RC, Otten BJ. Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment. Clin Endocrinol (Oxf) 2001;54:53-9.
21. Cianfarani S, Spadoni GL, Finocchi G, Ravet P, Costa F, Papa M, et al. Trattamento con ormone della crescita (GH) in tre casi di sindrome di Noonan. Minerva Pediatr 1987;39:281-4.
22. Noordam C, Burgt I van der, Sengers RC, Delemarre-van de Waal HA, Otten BJ. Growth hormone treatment in children with Noonan's syndrome: four year results of a partly controlled trial. Acta Paediatr 2001;90:889-94.
23. MacFarlane CE, Brown DC, Johnston LB, Patton MA, Dunger DB, Savage MO, et al. Growth hormone therapy and growth in children with Noonan's syndrome: results of 3 years' follow-up. J Clin Endocrinol Metab 2001;86:1953-6.
24. Noordam C, Draaisma JM, Nieuwenhof J van den, Burgt I van der, Otten BJ, Daniels O. Effects of growth hormone treatment on left ventricular dimensions in children with Noonan's syndrome. Horm Res 2001;136:110-3.
25. Shah N, Rodriguez M, Louis DS, Lindley K, Milla PJ. Feeding difficulties and foregut dysmotility in Noonan's syndrome. Arch Dis Child 1999;81:28-31.
26. Massarano AA, Wood A, Tait RC, Stevens R, Super M. Noonan syndrome: coagulation and clinical aspects. Acta Paediatr 1996;85:1181-5.
27. Burgt I van der, Thoonen G, Roosenboom N, Assman-Hulsmans C, Gabreels F, Otten B, et al. Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression. J Pediatr 1999;135:707-13.
28. Finegan JA, Hughes HE. Very superior intelligence in a child with Noonan syndrome. Am J Med Genet 1988;31:385-9.
29. Rourke BP, editor. Syndrome of nonverbal learning disabilities: neurodevelopmental manifestations. New York: Guilford Press; 1995.