UNASSIGNED: The aim of this study was to investigate the frequency of mitral valve prolapse between healthy females with generalized joint hypermobility and healthy controls.
UNASSIGNED: This observational, cross-sectional, controlled study included female individuals with generalized joint hypermobility (n=39, mean age: 20.5±1.1 years; range, 19 to 23 years) and healthy controls (n=42, mean age: 20.6±1.2 years; range, 18 to 23 years) between July 2017 and November 2017. The generalized joint hypermobility consisted of women with a Beighton score of ≥4, while the control group consisted of women with a Beighton score of ≤3. Echocardiography was performed to all participants. Mitral valve prolapse was defined as having single or bileaflet prolapse of at least 2 mm beyond the long-axis annular plane with or without mitral leaflet thickening.
UNASSIGNED: No significant difference was found in the age, height, body weight, and body mass index between the groups (p>0.05). The median Beighton score was 5 in the generalized joint hypermobility group and 2 in the control group. No mitral valve prolapse was detected in those with generalized joint hypermobility, while non-classical mitral valve prolapse was observed in one participant in the control group, indicating no statistically significant difference between the two groups (p>0.05).
UNASSIGNED: Our study results suggest that the frequency of mitral valve prolapse is comparable between the women with generalized joint hypermobility and healthy controls. Based on these results, routine assessment of mitral valve prolapse is not recommended in this population.

Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature.
We have assessed one consanguineous Saudi family with typical features of VDEGS. Two siblings were affected with almost identical features; including blepharophimosis, arachnodactyly, flexion contractures of the elbows, camptodactyly, slender ribs, hooked lateral clavicular ends, and bilateral radial head dislocations. Both patients had several unusual features; including joint laxity, flat feet, recurrent patellar dislocations, and bilateral short distal ulnae. Full sequencing of SCARF2 revealed a homozygous mutation c.773G > A (p. Cys258Tyr) in both affected children. The parents (both with no abnormalities) were heterozygous for the same mutation.
Joint laxity, recurrent patellar dislocations, and short distal ulnae should be included as part of the clinical spectrum of VDEGS.