Bauermeister S, Letts M
Division of Pediatric Orthopaedics, Children's Hospital of Eastern Ontario, Ottawa.
Orthop Rev. 1992 Jan;21(1):31-5.
Less than 50 cases of Langer-Giedion syndrome (also known as trichorhinophalangeal syndrome with exostoses) have been reported in the English literature since its first description in 1974. Affected individuals have been described as having a bulbous nose, micrognathia, short stature, multiple cartilaginous exostoses, and large, protruding ears. We recently treated a 5-year-old, mentally retarded boy with Langer-Giedion syndrome for symptomatic multiple exostoses involving his proximal tibia and distal femur. This paper will highlight the musculoskeletal abnormalities found in this child and compare them to those of 43 patients reported in the world literature. The comparison reveals a very distinctive pattern of exostosis, demonstrating a primary altered growth pattern in the lower extremities and deformity secondary to marked ligamentous laxity. Orthopaedic surgeons are frequently the first consultants to see these children for their obvious osteochondromata. They must consider the diagnosis of Langer-Giedion syndrome to facilitate the treatment of its other manifestations.
自1974年首次描述以来，英文文献中报道的朗格-吉迪恩综合征（也称为伴外生骨疣的毛发鼻指综合征）病例不到50例。受影响的个体被描述为具有球根状鼻、小颌畸形、身材矮小、多发性软骨外生骨疣以及大而突出的耳朵。我们最近治疗了一名患有朗格-吉迪恩综合征的5岁智力发育迟缓男孩，他的胫骨近端和股骨远端出现了有症状的多发性外生骨疣。本文将重点介绍该患儿发现的肌肉骨骼异常情况，并将其与世界文献中报道的43例患者的情况进行比较。比较结果显示出一种非常独特的外生骨疣模式，表明下肢存在原发性生长模式改变以及由于明显的韧带松弛导致的继发性畸形。骨科医生常常是首批因这些患儿明显的骨软骨瘤而会诊的医生。他们必须考虑朗格-吉迪恩综合征的诊断，以便对其其他表现进行治疗。
