Article
The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion.
European journal of medical genetics - 1 Oct 2024
Da Cás Eduardo, Pires Lucas V L, Linnenkamp Bianca D W, Allegro Marcella C, Honjo Rachel S, Bertola Débora R, Aoi Hiromi, Matsumoto Naomichi, Kim Chong Ae
Abstract excerpt
OBJECTIVE: to report the first case series of Brazilian children diagnosed with Kleefstra syndrome, present a possible phenotype expansion to the syndrome and to raise physicians' awareness for this rare disease. RESULTS: seven patients with confirmed KS were evaluated, including 5 males and 2 females. Abnormal prenatal findings were observed in 4 patients. Most patients were born at term, with normal birth...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.