【摘要】 歌舞伎综合征(KMS)首次由日本报道,发病率约1/32 000。该疾病常伴发多种先天畸形,但目前没有明确的诊断标准。KMS主要通过5个临床表现来诊断:(1)特殊面容;(2)骨骼异常;(3)皮纹异常;(4)轻中度智力发育落后;(5)身材短小。除此之外,其他的特殊表现也有助于诊断该疾病,但是该综合征伴发先天性膈疝(CDH)较罕见。本文报道了1例12月龄KMS患儿伴发CDH和腭裂。该病例提示对于KMS患者有必要进行全面的体格检查,同时全面的麻醉管理也非常重要。更多还原

【Abstract】 Kabuki syndrome(KMS)is characterized by multiple congenital anomalies with an incidence of 1/32 000 in Japan. There is no any standard of dignosis for KMS. Five diagnostic criteria for KMS are as follows,including a characteristic facial dysmorphism,skeletal anomalies,dermatoglyphic anomalies,postnatal short stature and mild to moderate mental retardation. In addition,other rare clinical features also have implications for the diagnosis of KMS. Congenital diaphragmatic hernia(CDH)is an unfrequent concomitnta symptom in KMS. In this case report,we describe a 12-month-old boy with KMS who is diagnosed with CDH and cleft palate. It is recommended that careful dysmorphological examination should be performed in all patients with KMS. Meanwhile,a prudent anesthetic management is of great importance for such patients.更多还原