Triple A syndrome--diagnostic and management issues.
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.
Bijarnia
Sunita
S
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi.
Verma
I C
IC
D000304:Adrenal Cortex Function Tests; D000309:Adrenal Insufficiency / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D002675:Child, Preschool; D004931:Esophageal Achalasia / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D005260:Female; D006801:Humans; D017495:Hyperpigmentation / Q000209:etiology; D007223:Infant; D007766:Lacrimal Apparatus Diseases / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D008297:Male; D008487:Medical History Taking; D010375:Pedigree; D035781:Siblings; D013577:Syndrome; D016896:Treatment Outcome