Kabuki syndrome: a review study of three hundred patients.
Title | Kabuki syndrome: a review study of three hundred patients. |
Publication Type | Journal Article |
Year of Publication | 2002 |
Authors | Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ |
Journal | Clinical dysmorphology |
Volume | 11 |
Issue | 2 |
Pagination | 95-102 |
Date Published | 2002 Apr |
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 palatei, and characteristic faciesi with long palpebral fissuresi, everted lower laterali eyelids and arched eyebrows. Postnatal growth retardation, skeletal and viscerali anomalies are present in a large percentage of patients. We review here the characteristics of this peculiar syndrome in three hundred patients. |
Alternate Journal | Clin. Dysmorphol. |
Citation Key | 12002156 |
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