- 期刊
Congenital Contractural Arachnodactyly (Beals Syndrome)
先天性攣縮性蜘蛛腳狀指（趾）
摘要
先天性攣縮性蜘蛛腳狀指（趾）是一種常染色體顯性疾病，其外表型與馬凡氏症候群有許多相似之處，具有蜘蛛腳狀指（趾）、細長的體型、脊柱側彎、先天性多發性攣縮的關節以及異常的外耳。我們統計近八年來共十十八名病患，詳細描述其臨床表現，發現除了以上特征外，還包括發育遲緩，以及神經運動發展遲滯。所有病患均可見攣縮性蜘蛛腳狀指（趾）會隨著時間逐漸改善，但脊柱側彎卻日益嚴重。相較於馬凡氏症候群，本症病患在眼科方面均無異常，32.3%的患者有先天性心臓病，以心房中膈缺損及心室中膈缺損最爲常見。28位病患當中，除了一對姐弟外，其他均爲散在性病例。
並列摘要
Congenital contractural arachnodactyly (CCA, Beals syndrome) is an autosomal dominant disorder that is phenotypically similar to Marfan syndrome. CCA is characterized by arachnodactyly, dolichostenomelia, scoliosis, multiple congenital contractures and abnormalities of the external ears. We report here 28 patients with CCA, in whom a wide range of phenotypic expression is observed. These individals usually have abnormally formed ears, limited extension of fingers and toes, arachnodactyly, clinodactyly, delay of developmental milestones and psychomotor retardation. Limited extensions of elbows, knees and hips are not constant features. With time, those affected individuals experience spontaneous improvement of their contractures but the kyphosis, unlike the joint contractures, tends to be progressive. No ocular problems were found in all patients, but congenital heart defects were detected in 32.2% of them. Atrial septal defect and ventricular septal defect are common components in our patients. Within the only one family with two multiply affected siblings there is little phenotypic variation between the patients.