Houston C S, Opitz J M, Spranger J W, Macpherson R I, Reed M H, Gilbert E F, Herrmann J, Schinzel A
Am J Med Genet. 1983 May;15(1):3-28. doi: 10.1002/ajmg.1320150103.
We report 17 cases of the campomelic syndrome (CS) and a follow-up of one of the original patients of Maroteaux et al who is now 17 years old. Our review is based on 97 patients, including our own. An infant with the CS presents at birth with spectacularly short and bowed femora and tibiae. The initial chest radiograph confirms the diagnosis by demonstrating extremely small bladeless scapulae and hypoplastic pedicles of many thoracic vertebrae. Ossification of the sternal segments, pubis, talus, and knee epiphyses is also retarded. Usually the hips are dislocated and talipes equinovarus deformities are present. There is a small chondrocranium and a disproportionately large neurocranium. The bell-shaped chest, narrow superiorly, does not explain the degree of respiratory distress that soon ensues. Narrow airways from defective tracheo-bronchial cartilage can often be demonstrated on the radiograph, but micrognathia, retroglossia, cleft palate, hypoplastic lungs, and even CNS-based hypotonia contribute to the respiratory problem. Internal anomalies include frequent absence of olfactory bulbs and tracts and dilatation of cerebral ventricles, heart defects (PDA, VSD, stenosis of aortic isthmus), hydroureter and hydronephrosis, renal hypoplasia, renal hypoplasia, and rarely renal cysts.
我们报告了17例弯肢侏儒综合征（CS）病例，并对Maroteaux等人最初报道的一名现已17岁的患者进行了随访。我们的综述基于97例患者，包括我们自己的病例。患有CS的婴儿出生时股骨和胫骨显著短小且弯曲。最初的胸部X光片通过显示极小的无叶片肩胛骨和许多胸椎椎弓根发育不全来确诊。胸骨节段、耻骨、距骨和膝关节骨骺的骨化也延迟。通常髋关节脱位，存在马蹄内翻足畸形。有一个小的软骨颅和不成比例的大神经颅。钟形胸部，上部狭窄，无法解释随后很快出现的呼吸窘迫程度。X线片上常可显示气管支气管软骨缺陷导致的气道狭窄，但小颌畸形、舌后坠、腭裂、肺发育不全，甚至中枢神经系统性肌张力低下也会导致呼吸问题。内部异常包括嗅球和嗅束常缺如、脑室扩张、心脏缺陷（动脉导管未闭、室间隔缺损、主动脉峡部狭窄）、输尿管积水和肾积水、肾发育不全，很少见肾囊肿。
