Related Experiment Video
Updated: Apr 8, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum
Joaquín Pérez-Andreu1, Victor Glenn Ray1, José María Arribas1
1Cardiovascular Surgery Service, Virgen de la Arrixaca University Hospital, Murcia, Spain.
Abstract:
Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.
Related Concept Videos
Erikson's Theory on Socioemotional Development during Adulthood
Intimacy Versus Isolation in Early Adulthood
Individuals in early...
Sex-linked Disorders
Sex Linked Disorders
Disorders of the Nervous Tissue
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
Cognitive Development During Adulthood
Disorders of Leukocytes
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...

