Robinow M, Johnson G F, Broock G J
Am J Med Genet. 1982 Apr;11(4):475-82. doi: 10.1002/ajmg.1320110414.
We report a mother and three of her four children with type V syndactyly. All the patients had metacarpal 4-5 fusion. The other hand anomalies consisted of abnormal origin of the fifth fingers, anomalies of digits 4 and 5, brachydactyly, syndactyly, camptodactyly, absent distal interphalangeal creases, and unusual palmar dermatoglyphics. Anomalies of the feet consisted of varus deviation of the metatarsals, valgus deviation of the toes, hyperplasia of the first ray, and hypoplasia of the third to fifth rays. None of the patients had metatarsal fusions. The anomalies were similar in the mother and her two older sons far less severe in her daughter. This daughter also had a congenital anomaly of the urinary tract. Anomalous and/or defective muscle and tendon insertions were demonstrated in one patient during an operation. Syndactyly V is transmitted as an autosomal dominant trait.
我们报告了一位母亲及其四个孩子中的三个患有Ⅴ型并指畸形。所有患者均有第4、5掌骨融合。另一只手的异常包括第五指起始异常、第4和5指异常、短指畸形、并指畸形、屈曲指畸形、远侧指间横纹缺失以及不寻常的手掌皮纹。足部异常包括跖骨内翻、趾外翻、第一跖骨增生以及第三至第五跖骨发育不全。所有患者均无跖骨融合。母亲及其两个大儿子的异常情况相似,其女儿的异常则要轻得多。这个女儿还患有先天性泌尿系统异常。在一名患者手术过程中发现了异常和/或有缺陷的肌肉和肌腱附着。Ⅴ型并指畸形以常染色体显性性状遗传。