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Abstract：
OBJECTIVE: Accurate understanding of the cause of the underlying pathology in children with diastrophic dysplasia would help in designing targeted management of their locomotion.
METHODS: Diastrophic dysplasia was diagnosed in twelve patients (nine girls and three boys; age range 1-14 years), all of whom presented with small stature and apparent short extremities. Club foot (mostly talipes equinovarus) was the most frequent and consistent abnormality. Concomitant abnormalities such as hip flexion contracture, flexion contractures of the knees with excessive valgus deformity and lateral patellar subluxation, were also encountered. Muscle ultrasound and muscle magnetic resonance imaging imaging showed no myopathic changes and muscle biopsies and the respiratory chain were normal. Serum choline kinase and plasma lactate concentrations were normal.
RESULTS: Surgical correction of the foot and ankle in patients with diastrophic dysplasia is extremely difficult because of the markedly distorted anatomy. In all of these children, plantigrade foot was achieved along with the improved function of the locomotor system. Mutations of the diastrophic dysplasia sulfate transporter (also known as solute carrier family 26 member 2) were encountered.
CONCLUSIONS: Arthrogryposis multiplex is the usual terminology used to describe the abnormality in infants with multiple contractures. Diligent orthopaedic care should be provided based on an accurate understanding of the associated syndromes in such children.
METHODS: Diastrophic dysplasia was diagnosed in twelve patients (nine girls and three boys; age range 1-14 years), all of whom presented with small stature and apparent short extremities. Club foot (mostly talipes equinovarus) was the most frequent and consistent abnormality. Concomitant abnormalities such as hip flexion contracture, flexion contractures of the knees with excessive valgus deformity and lateral patellar subluxation, were also encountered. Muscle ultrasound and muscle magnetic resonance imaging imaging showed no myopathic changes and muscle biopsies and the respiratory chain were normal. Serum choline kinase and plasma lactate concentrations were normal.
RESULTS: Surgical correction of the foot and ankle in patients with diastrophic dysplasia is extremely difficult because of the markedly distorted anatomy. In all of these children, plantigrade foot was achieved along with the improved function of the locomotor system. Mutations of the diastrophic dysplasia sulfate transporter (also known as solute carrier family 26 member 2) were encountered.
CONCLUSIONS: Arthrogryposis multiplex is the usual terminology used to describe the abnormality in infants with multiple contractures. Diligent orthopaedic care should be provided based on an accurate understanding of the associated syndromes in such children.
摘要：
目的：准确了解非萎缩性发育不良儿童的潜在病理原因将有助于设计有针对性的运动管理。
方法：在12例患者（9名女孩和3名男孩；年龄范围1-14岁）中，所有这些人都表现出身材矮小和明显的四肢短小。俱乐部足（主要是马蹄足）是最常见和一致的异常。伴随异常，如髋关节屈曲挛缩，膝关节屈曲挛缩伴过度外翻畸形和髌骨外侧半脱位，也遇到了。肌肉超声和肌肉磁共振成像成像显示无肌病改变，肌肉活检和呼吸链正常。血清胆碱激酶和血浆乳酸浓度正常。
结果：由于解剖结构明显扭曲，手术矫正非萎缩性发育不良患者的足踝极其困难。在所有这些孩子中，随着运动系统功能的改善，平足得以实现。遇到了营养性发育不良硫酸盐转运蛋白（也称为溶质载体家族26成员2）的突变。
结论：多发性关节病是用于描述多发性挛缩婴儿异常的常用术语。应根据对此类儿童相关综合征的准确理解，提供勤奋的骨科护理。
方法：在12例患者（9名女孩和3名男孩；年龄范围1-14岁）中，所有这些人都表现出身材矮小和明显的四肢短小。俱乐部足（主要是马蹄足）是最常见和一致的异常。伴随异常，如髋关节屈曲挛缩，膝关节屈曲挛缩伴过度外翻畸形和髌骨外侧半脱位，也遇到了。肌肉超声和肌肉磁共振成像成像显示无肌病改变，肌肉活检和呼吸链正常。血清胆碱激酶和血浆乳酸浓度正常。
结果：由于解剖结构明显扭曲，手术矫正非萎缩性发育不良患者的足踝极其困难。在所有这些孩子中，随着运动系统功能的改善，平足得以实现。遇到了营养性发育不良硫酸盐转运蛋白（也称为溶质载体家族26成员2）的突变。
结论：多发性关节病是用于描述多发性挛缩婴儿异常的常用术语。应根据对此类儿童相关综合征的准确理解，提供勤奋的骨科护理。
