Mitral valve repair and tricuspid annuloplasty for Coffin–Lowry syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Asian Cardiovascular and Thoracic Annals"
DOI: 10.1177/02184923221123879
Abstract: Coffin–Lowry syndrome is a rare X-linked disorder that shows a varied clinical presentation. We report cardiac involvement, particularly abnormalities of mitral valve morphology, in a 14-year-old male adolescent with a known diagnosis of Coffin–Lowry syndrome,… read more here.
Keywords: lowry syndrome; valve repair; mitral valve; tricuspid annuloplasty ... See more keywords
Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Investigative Medicine High Impact Case Reports"
DOI: 10.1177/23247096221101844
Abstract: Pathogenic variants in RPS6KA3 are associated with Coffin-Lowry syndrome (CLS), an X-linked semidominant disorder characterized by intellectual disability, stimulus-induced drop attacks, distinctive facial features, progressive kyphoscoliosis, and digit anomalies in hemizygous males. Heterozygous females may… read more here.
Keywords: lowry syndrome; hypercalcemia; cls; phenotypic variation ... See more keywords
Airway management of a patient with coffin-lowry syndrome: a case report
Sign Up to like & getrecommendations! Published in 2024 at "BMC Anesthesiology"
DOI: 10.1186/s12871-024-02667-7
Abstract: Coffin-Lowry Syndrome (CLS) is a rare X-linked genetic disorder characterized by growth delays, facial dysmorphisms, and intellectual disabilities. Currently, there are limited published case reports regarding the anesthetic management of patients with CLS. Managing anesthesia… read more here.
Keywords: case report; airway management; case; management ... See more keywords