Alanay Yasemin, Utine Gulen Eda, Lachman Ralph S, Krakow Deborah, Tuncbilek Ergul
Clinical Genetics Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Pediatr Radiol. 2006 Sep;36(9):970-3. doi: 10.1007/s00247-006-0217-z. Epub 2006 May 20.
Larsen syndrome is an autosomal-dominant disorder characterized by multiple joint dislocations, vertebral anomalies and dysmorphic facies. Both autosomal-dominant and autosomal-recessive forms of the disorder have been proposed. Individuals with autosomal-dominant Larsen syndrome have characteristic "cylindrical-shape" thumbs caused by broad, shortened phalanges. Autosomal-dominant Larsen syndrome results from heterozygosity for mutations in filamin B, a cytoskeletal protein involved in multicellular processes. We report here a patient with a duplicated or accessory distal thumb phalanx and multiple large joint dislocations who was shown to be heterozygous for a filamin B mutation predicting the amino acid substitution G1691S. This adds a new radiographic finding, duplicated or accessory distal phalanx, to the radiographic abnormalities seen in this rare dominant disorder.
拉森综合征是一种常染色体显性疾病，其特征为多处关节脱位、脊椎异常和面部畸形。该疾病已被提出存在常染色体显性和常染色体隐性两种形式。患有常染色体显性拉森综合征的个体，由于指骨宽阔、缩短而具有特征性的“圆柱形”拇指。常染色体显性拉森综合征是由细丝蛋白B（一种参与多细胞过程的细胞骨架蛋白）突变的杂合性引起的。我们在此报告一名患者，其拇指远端指骨重复或有副指骨，并有多处大关节脱位，经检测该患者细丝蛋白B突变杂合，预测氨基酸替代为G1691S。这为这种罕见的显性疾病的影像学异常增加了一项新的影像学发现，即拇指远端指骨重复或有副指骨。
