期刊
CLINICAL DYSMORPHOLOGY
卷 11, 期 2, 页码 95-102出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/00019605-200204000-00004
关键词
Kabuki syndrome; long palpebral fissures; fetal pads; review
The Kabuki (make-up) syndrome identified in 1981 has been reported in more than three hundred patients. Typical findings include mild to moderate mental retardation, fetal pads, cleft palate, and characteristic facies with long palpebral fissures, everted lower lateral eyelids and arched eyebrows. Postnatal growth retardation, skeletal and visceral anomalies are present in a large percentage of patients. We review here the characteristics of this peculiar syndrome in three hundred patients.
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