M. W. Wessels, A. Brooks, J. Hoogeboom, M. Niermeijer, P. Willems
2002.4.1CLINICAL DYSMORPHOLOGY
tlooto Summary
The Kabuki (make-up) syndrome identified in 1981 has been reported in more than three hundred patients and 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.
Abstract
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.
Citation format
WESSELS, M. W., et al. Kabuki syndrome: A review study of three hundred patients. CLINICAL DYSMORPHOLOGY, 2002, 11 2: 95–102.