Isojima Tsuyoshi, Kitanaka Sachiko
Nihon Rinsho. 2015 Nov;73(11):1959-64.
Kenny-Caffey syndrome (KCS) is a very rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. Two types of KCS were known: the autosomal recessive form (KCS type 1), which is caused by mutations of the TBCE gene, and the autosomal dominant form (KCS type 2), which is caused by mutations of the FAM111A gene. TBCE mutation also causes hypoparathyroidism-retardation-dysmorphism syndrome, and FAM111A mutation also causes gracile bone dysplasia. These two diseases can be called as KCS-related syndromes. In this article, we review the clinical manifestations of KCS and discuss its related syndromes.
肯尼-卡菲综合征（KCS）是一种非常罕见的畸形综合征，其特征为身材比例矮小、管状骨皮质增厚和髓腔狭窄、前囟闭合延迟、眼部异常以及甲状旁腺功能减退。已知KCS有两种类型：常染色体隐性遗传型（1型KCS），由TBCE基因突变引起；常染色体显性遗传型（2型KCS），由FAM111A基因突变引起。TBCE突变还会导致甲状旁腺功能减退-发育迟缓-畸形综合征，FAM111A突变还会导致纤细骨发育异常。这两种疾病可称为KCS相关综合征。在本文中，我们回顾了KCS的临床表现并讨论了其相关综合征。
