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
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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