Abdel-Ghani Hisham, Amro Sherif
Department of Orthopaedics, Cairo University, Cairo, Egypt.
J Pediatr Orthop B. 2004 Mar;13(2):127-38. doi: 10.1097/00009957-200403000-00013.
The aim of this study was to characterize a group of patients with hypoplasia of the thumb, classifying them, describing the associated anomalies and to evaluate the results of surgical treatment of such cases. Thumb hypoplasia is a complex and heterogeneous congenital disorder that is detrimental to hand functions. The characteristics of patients with these anomalies are not well described in the literature. A prospective study on 51 patients with 82 hypoplastic thumbs was done. All the patients' data regarding their personal, family, pregnancy and developmental histories were recorded. All the patients were exposed to thorough clinical examination with genetic assessment and radiological examination including abdominal ultrasonography and echocardiography when requested by the paediatrician. The cases were classified using the modified Blauth classification into five types and we added the five-fingered hand. Surgical treatment was performed for 26 hands in 18 patients and the postoperative results were recorded with an average duration of follow-up of 38.6 months. Of the 51 patients, there was a positive consanguinity in 23.5%. Eighty-six per cent were found to have associated anomalies. Type V thumb hypoplasia was the most common type followed by type IV, with type I being the least common. All the patients' parents were satisfied with the results of surgical treatment and noticed improvement of the performance of the operated hands in the daily activities. We detected some anomalies that have never been described before or described as case reports only; such as lacunar skull, congenital facial palsy and toe amputation; we also described familial radial side dysplasia with variable presentation of congenital anomalies of the thumb in the families. In addition, we think that the five-fingered hand should be added to the classification of thumb hypoplasia. Our study agrees with the literature regarding the distribution of different types of hypoplasia of the thumb, the incidence of associated anomalies and the results of surgical treatment.
本研究的目的是对一组拇指发育不全的患者进行特征描述，对他们进行分类，描述相关异常情况，并评估此类病例的手术治疗结果。拇指发育不全是一种复杂且异质性的先天性疾病，对手部功能有害。文献中对这些异常患者的特征描述并不充分。我们对51例患者的82个发育不全的拇指进行了一项前瞻性研究。记录了所有患者的个人、家族、妊娠和发育史数据。所有患者均接受了全面的临床检查，包括基因评估以及放射学检查，儿科医生要求时还包括腹部超声检查和超声心动图检查。这些病例使用改良的布劳思分类法分为五种类型，我们还增加了五指手的情况。对18例患者的26只手进行了手术治疗，并记录了术后结果，平均随访时间为38.6个月。在51例患者中，23.5%存在近亲结婚情况。发现86%的患者伴有相关异常。V型拇指发育不全是最常见的类型，其次是IV型，I型最不常见。所有患者的父母对手术治疗结果满意，并注意到手术手在日常活动中的表现有所改善。我们发现了一些以前从未描述过或仅作为病例报告描述过的异常情况；如颅骨陷窝、先天性面瘫和脚趾截肢；我们还描述了家族性桡侧发育不良，其家族中拇指先天性异常表现多样。此外，我们认为五指手应添加到拇指发育不全的分类中。我们的研究在拇指发育不全不同类型的分布、相关异常的发生率以及手术治疗结果方面与文献一致。
