Cortes Lacassie syndrome
Clinical
Features
Variants
Images
Differential
Histology
Features
Variants
Images
Differential
Pathophysiology
Epidemiology
Associations
Workup
Labs
Imaging
Diagnostic criteria
Management
Treatment
Monitoring
Counseling
Other considerations
Cortes Lacassie syndrome is a rare disease that is characterized by seizures, abnormalities in nails, hair and teeth, and malformed hands and feet. It is named after Fanny Cortes and Yves Lacassie, two researchers from the University of Chile who discovered the disease in 1986.[1] Cortes Lacassie syndrome is considered a rare disease and has only been recorded in one case, leading to death at 31 months.[2]
Symptoms
This disease is characterized by agenesis of fingers and toes, and hypotrophy of fingernails at birth. At 3 months, the baby exhibited delayed psychomotor development and developed myoclonic seizures. Chromosomal study indicated no abnormalities. The baby developed acute epileptic seizures, acute renal failure, and hepatorenal syndrome, passing away at 31 months.[1]
Related Diseases
Cortes Lacassie syndrome is a form of ectodermal dysplasia, postulated to be a new type of the group of tricho-odonto-onychic disorders.
Cause
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References
- ↑ 1.0 1.1 Cortes, Fanny; Lacassie, Yves; Fraser, F. Clarke; Preus, Marilyn (1986-10-01). "An unusual case of ectodermal dysplasia". American Journal of Medical Genetics. 25 (2): 289–291. doi:10.1002/ajmg.1320250213. ISSN 1096-8628. PMID 3777024.
- ↑ "Cortes Lacassie syndrome — CheckOrphan". www.checkorphan.org. 31 December 2014. Retrieved 2017-04-24.
