Spranger J, Hall B D, Häne B, Srivastava A, Stevenson R E
Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
Am J Med Genet. 2000 Oct 2;94(4):287-95. doi: 10.1002/1096-8628(20001002)94:4<287::aid-ajmg5>3.0.co;2-g.
Follow-up and re-evaluation of four patients originally described as examples of severe infantile "micromelic chondrodysplasia" resembling Kniest disease, "kyphomelic dysplasia," and "Burton skeletal dysplasia" revealed the diagnosis of Schwartz-Jampel syndrome (SJS, myotonic chondrodysplasia) in all of them. SJS may be suspected in neonates with Kniest-like chondrodysplasia, congenital bowing of shortened femora and tibiae, and facial manifestations consisting of a small mouth, micrognathia, and possibly pursed lips. The disorder must be differentiated from the Stüve-Wiedemann syndrome, a genetically distinct myotonic chondrodysplasia with similar clinical but different skeletal changes and an unfavorable early prognosis. The demise of "kyphomelic dysplasia" as a nosological entity reemphasizes the symptomatic nature of congenital bowing of the long bones.
对最初被描述为类似克尼斯特病、脊柱前弯侏儒症和伯顿骨骼发育不良的严重婴儿“短肢性软骨发育不良”病例的4名患者进行随访和重新评估后，发现他们均被诊断为施瓦茨-扬佩尔综合征（SJS，肌强直性软骨发育不良）。对于患有类似克尼斯特病的软骨发育不良、先天性缩短股骨和胫骨弯曲以及表现为小嘴、小颌畸形且可能撅嘴的面部特征的新生儿，可能会怀疑患有SJS。必须将这种疾病与施图韦-维德曼综合征区分开来，后者是一种基因上不同的肌强直性软骨发育不良，具有相似的临床症状但骨骼变化不同，且早期预后不佳。“脊柱前弯侏儒症”作为一个病种的消亡再次强调了长骨先天性弯曲的症状性本质。
