Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report
| Autor: | Khushnooda Ramzan, Mohammad M. Al-Qattan, Faiqa Imtiaz, Nadia Sakati, Doaa F. Andejani |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
musculoskeletal diseases Joint Instability Male lcsh:Internal medicine Contracture lcsh:QH426-470 Adolescent Recurrent patellar dislocation Patellar Dislocation Saudi Arabia Case Report Blepharophimosis Joint laxity 03 medical and health sciences Camptodactyly Arachnodactyly Genetics medicine Humans Abnormalities Multiple lcsh:RC31-1245 Child Genetics (clinical) Short distal ulnae business.industry Siblings Homozygote High-Throughput Nucleotide Sequencing Van Den Ende-Gupta syndrome Van den Ende-Gupta syndrome Anatomy Slender ribs medicine.disease musculoskeletal system Flatfoot Scavenger Receptors Class F lcsh:Genetics 030104 developmental biology Short distal ulna Female medicine.symptom business Hand Deformities Congenital |
| Zdroj: | BMC Medical Genetics BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018) |
| ISSN: | 1471-2350 |
| Popis: | Background 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. 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. Conclusion Joint laxity, recurrent patellar dislocations, and short distal ulnae should be included as part of the clinical spectrum of VDEGS. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink