Department of Pediatrics, University of Genoa, Gaslini Children's Hospital, Italy.
Lymphology. 2010 Dec;43(4):188-91.
Kabuki syndrome was first described in Japan in 1981 as a rare disorder of unknown cause. Its main features include characteristic facies, postnatal growth retardation, and mental delay. To date, there is no molecular marker for Kabuki syndrome, which is considered genetically heterogeneous and still is a clinically-based diagnosis. Here we describe the first case of a patient affected by Kabuki syndrome associated with lymphatic dysplasia. We suggest accurate evaluation of all Kabuki patients as early as possible in order to diagnose lymphedema or other clinical manifestations of lymphatic system involvement. Early identification of lymphatic system maldevelopment provides the best chance for reducing the risk of developing progressive lymphedema with associated tissue changes (fibrosis, sclerosis, and fat deposition).
歌舞伎综合征于 1981 年在日本首次被描述为一种病因不明的罕见疾病。其主要特征包括特征性面容、出生后生长迟缓以及智力发育迟缓。迄今为止，歌舞伎综合征尚无分子标志物，该病被认为具有遗传异质性，仍然是一种基于临床的诊断。在这里，我们描述了首例患有歌舞伎综合征伴淋巴发育不良的患者。我们建议尽早对所有歌舞伎综合征患者进行准确评估，以便诊断淋巴水肿或其他淋巴系统受累的临床表现。早期识别淋巴系统发育不良为降低发生进展性淋巴水肿和相关组织变化（纤维化、硬化和脂肪沉积）的风险提供了最佳机会。
