Noonan Syndrome

  • Dina D. Department of Child Health, Universitas Udayana Medical School/Sanglah Hospital, Denpasar, Bali
  • Soetjiningsih Soetjiningsih Department of Child Health, Universitas Udayana Medical School/Sanglah Hospital, Denpasar, Bali
  • Hamid A. Department of Child Health, Universitas Udayana Medical School/Sanglah Hospital, Denpasar, Bali
  • Sudaryat S. Department of Child Health, Universitas Udayana Medical School/Sanglah Hospital, Denpasar, Bali
Keywords: Noonan syndrome; Denver Development Screening Test; Vineland Social Maturiay Scale; hormonal therapy; cryptorchidism; short stature

Abstract

A case of Noonan syndrome in an Indonesian baby boy is reported. The diagnosis was based on history, physical examination and abnormalities on Denver Development Screening Test and Vineland Social Maturity Scale. Treatment consisted of hormonal therapy for cryptorchidism and short stature, physiotherapy, and surgical correction cryptorchidism and cardiac anomaly if necessary. The prognosis for life span was good.

References

1. Behnnan RE, Vaughan VC. Nelson textbook of pediatrics, 13th ed. Philadelphia: WB Saunders Co, 1983; 307-8, 1497, 15018, 1976.
2. Baird P. Noonan syndrome (XX and XY Turner phenotype) in three generation of family. J Pediatr 1972; 80:110-4.
3. Bergsma D. Birth defects compendium, 2nd ed. New York: Allan R.liss, 1979: 25, 643,778-7, 877-8, 1056-8.
4. Collins E, Turner G. The Noonan syndrome; a review of the clinical and genetic features of 27 cases. J Pediatr 1973; 83: 941-50.
5. Harper et aL Handbook of Neonatology, 2nd ed. Year book Medical Publishers, Inc, Chicago, 1987: 143, 152, 155, 162.
6. Heller R. The Turner phenotype in the male. J Pediatr 1965; 66:48-63.
7. Jackson L, Schimke N. Clinical genetics a source book for physicians. New York: John Wiley & Sons 1979; 46-50, 306, 449-50.
8. Moshany Th. Gonadal function in mosaic XOfXY or XX/XY Turner's syndrome. J Pediatr 1972; 80:460-4.
9. Kurick V. Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal excessive and X linked phenotypes, 7th ed. Baltimore: The Johns Hopkins University Press, 1986; 3, 454,531-2.
10. Oski FA. Principles and practice of pediatrics. Philadephia: JB Lipincott Co, 1990; 856, 1987,2000-1,2009.
Published
2018-12-04
How to Cite
1.
D. D, Soetjiningsih S, A. H, S. S. Noonan Syndrome. PI [Internet]. 4Dec.2018 [cited 24Dec.2024];34(7-8):216-0. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2044
Received 2018-12-04
Published 2018-12-04