(L.A.) Catherine Saenz, a Baby, Died at a Residence
Case Number: 2021-11878
Los Angeles County is reporting the death of a Hispanic female that occurred at her residence.
The coroner’s office has identified the infant girl as Catherine Saenz of Downey.
Manner of Death: Natural
Cause of Death: Sequelae of Achondroplasia with Reported FGFR3 De Novo Pathogenic Variant
Other Significant Conditions: Positive for Human Rhinovirus/Enterovirus by Polymerase Chain Reaction
RIP CATHERINE SAENZ (June 9, 2021 – October 26, 2021)
Formal pronouncement of death was made on Tuesday at 5:25 p.m.
The child was about four and a half months old.
Achondroplasia is the most common form of short-limbed skeletal dysplasia, primarily caused by gain-of-function mutations in the FGFR3 gene. The most common mutation is the p.G380R variant, which accounts for about 98% of cases. When a de novo pathogenic variant in FGFR3 occurs, it can lead to severe manifestations of achondroplasia.