将关节松弛、复发性髌骨脱位和尺骨远端短小纳入范登恩德 - 古普塔综合征的特征：一例报告。
Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.
作者信息
Al-Qattan Mohammad M, Andejani Doaa F, Sakati Nadia A, Ramzan Khushnooda, Imtiaz Faiqa
机构信息
Department of Surgery, King Saud University, PO Box 18097, Riyadh, 11415, Saudi Arabia.
King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
出版信息
BMC Med Genet. 2018 Jan 30;19(1):18. doi: 10.1186/s12881-018-0531-y.
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.
背景
范登恩德 - 古普塔综合征（VDEGS）是一种极其罕见的常染色体隐性综合征，全球文献中报道的家族少于20个（约40例患者）。
病例报告
我们评估了一个具有VDEGS典型特征的沙特近亲家族。两名兄弟姐妹表现出几乎相同的特征，包括睑裂狭小、蜘蛛指、肘部屈曲挛缩、屈曲指、细长肋骨、锁骨外侧端钩状以及双侧桡骨头脱位。两名患者还有一些不寻常的特征，包括关节松弛、扁平足、复发性髌骨脱位以及双侧尺骨远端短小。对SCARF2进行全序列分析发现，两名患病儿童均存在纯合突变c.773G＞A（p.Cys258Tyr）。父母（均无异常）为该突变的杂合子。
结论
关节松弛、复发性髌骨脱位和尺骨远端短小应纳入VDEGS的临床谱。
Zotero 插件