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- Title
Genetics Corner: Klippel-Trenaunay Syndrome in an Infant with a Mosaic PIK3CA Variant, a Target for the Medical Treatment of Asymmetric Overgrowth.
- Authors
Clark, Robin D.; Ramanathan, Subhadra
- Abstract
The article presents a case study of a 16-week-old late preterm female with Klippel-Trenaunay syndrome (KTS). Topics include examining the newborn nursery, subtle hemihypertrophy of the right leg, a wide right foot with splayed toes, and a port-wine stain on the midback; and sporadic vascular malformation with asymmetric overgrowth usually affecting a lower extremity in an otherwise healthy newborn.
- Subjects
THERAPEUTIC use of antineoplastic agents; INFANT development; GENETIC mutation; KLIPPEL-Trenaunay-Weber Syndrome; GENETIC testing; GENE expression; CELLULAR signal transduction
- Publication
Neonatology Today, 2022, Vol 17, Issue 5, p145
- ISSN
1932-7129
- Publication type
Case Study
- DOI
10.51362/neonatology.today/2022175145148