Apert Syndrome

  • Nengah Suparta Department of Child Health, Medical School, Gadjah Mada University, Yogyakarta
  • Hartono Hartono Department of Opthalmology Medical School, Gadjah Mada University, Yogyakarta
  • Sunartini Sunartini Department of Opthalmology Medical School, Gadjah Mada University, Yogyakarta
Keywords: Apert syndrome, phenotype, acrocephaly, syndactily

Abstract

A case of Apert syndrome in a male child of 5 months old hos been reported. The diagnosis was based on the clinical appearance (phenotype) showing acrocephaly and syndactily of both hands and feet, supported by skull rontgenography and ultrasonography.

The patient was the third child from normal parents, and the two other children were normal. Apert syndrome is a genetic dominant automal disease; and because there were no other sufferer from the family history, the occurrence of this syndrome has been caused by a new mutation. Symptomatic therapy such as the administration of acetazolamide for hydrocephalus and vitamin suplement to improve his general condition and even physical physiotherapy have been carried out. Genetic counselling to the couple has been provided as well.

References

1. HARTONO & SAROOJA R. Sindrom penyakit genetic yang menyangkut kelainan mata. B I Ked 1987; 14 (2): 67.72.
2. FEINGOLD M, PASHAYAN H. Genetic's and birth defect in clinical practice. 1st ed: Boston : Little Brown, 1983;
3. YONES KL. Smith’s recognizable pattern of human malformation, 4th ed. Philadelphia: WB Saunders, 1988.
4. RANIWATI, HARTONO, GUNAWAN. Penyakil Crouzon. KPPIM IV Perdami, Padang, 1986.
5. EMERY. Element of medical genetic. 4th ed; Edinburgh: Churchill Livingstone, 1975.
Published
1991-12-31
How to Cite
1.
Suparta N, Hartono H, Sunartini S. Apert Syndrome. PI [Internet]. 31Dec.1991 [cited 20Apr.2024];31(11-12):319-4. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/1454
Issue
Vol 31 No 11-12 (1991): November - December 1991
Section
Case Report

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Received 2017-05-30
Accepted 2017-05-30
Published 1991-12-31