Triple A syndrome--diagnostic and management issues.

Abstract

The authors present a family with three children affected with triple A syndrome--one had died, one was saved by diagnosis and timely therapy, and one was born after the diagnosis in the second child. The gene for the syndrome has been cloned and genetic counseling should be offered to these families.

• Authors: Sunita Bijarnia, I C Verma
• Journal: Indian journal of pediatrics (Indian J Pediatr) Vol. 70 Issue 4 Pg. 347-9 (Apr 2003) ISSN: 0019-5456 [Print] India
• PMID: 12793313 (Publication Type: Case Reports, Journal Article)

Topics

• Adrenal Cortex Function Tests
• Adrenal Insufficiency (complications, diagnosis, therapy)
• Child, Preschool
• Esophageal Achalasia (complications, diagnosis, therapy)
• Female
• Humans
• Hyperpigmentation (etiology)
• Infant
• Lacrimal Apparatus Diseases (complications, diagnosis, therapy)
• Male
• Medical History Taking
• Pedigree
• Siblings
• Syndrome
• Treatment Outcome