Edwards W C, Root A W
Am J Med Genet. 1982 Sep;13(1):51-6. doi: 10.1002/ajmg.1320130109.
We report on a 9-year-old boy with chondrodystrophic myotonia (Schwartz-Jampel syndrome) and the progress of a brother and sister with this syndrome first described in 1969. This is an autosomal recessive trait characterized by mask-like face, narrow palpebral fissures (due to blepharophimosis, blepharospasm, and abnormal orbital configuration), microstomia, micrognathia, myotonia, muscular hypertrophy, osteochondrodysplasia, and growth retardation. Expressivity varies and in some sibships females are less severely affected than their brothers. The sexual development of the sibs with chondrodystrophic myotonia, who are now in the mid to late second decade, has been normal. Linear growth rate accelerated during puberty but the adult height of the male is less than normal. Administration of human growth hormone had no consistent effect on the growth pattern of this boy.
我们报告了一名患有软骨营养障碍性肌强直（施瓦茨 - 詹佩尔综合征）的9岁男孩，以及1969年首次描述的患有该综合征的一对兄妹的病情进展。这是一种常染色体隐性性状，其特征为面具样面容、睑裂狭窄（由于睑裂狭小、睑痉挛及眼眶形态异常）、小口、小颌、肌强直、肌肉肥大、骨软骨发育不良及生长迟缓。其表现度各异，在一些同胞关系中，女性受影响程度比其兄弟轻。患有软骨营养障碍性肌强直的这对同胞现已处于十几岁中后期，其性发育正常。青春期线性生长速度加快，但该男性的成年身高低于正常水平。给予人生长激素对该男孩的生长模式没有持续一致的影响。
