ArticleBMC medical genetics2018
Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.
Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Familial association and epidemilogical factors as risk factors for developing first time and recurrent patella dislocation: a systematic review and best knowledge synthesis of present literature.Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA · 2023Pooled it
- Article
- Exploring scavenger receptor class F member 2 and the importance of scavenger receptor family in prediagnostic diseases.Toxicological research · 2023Review
- Scavenger receptor class F member 2 (SCARF2) as a novel therapeutic target in glioblastoma.Toxicological research · 2022Article
- Insights into the ligand binding specificity of SREC-II (scavenger receptor expressed by endothelial cells).FEBS open bio · 2021Article
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Authors and funding
5 authors.
Funding
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Abstract
backgroundVan 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. CASE PRESENTATION: 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.
conclusionJoint laxity, recurrent patellar dislocations, and short distal ulnae should be included as part of the clinical spectrum of VDEGS.
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