Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients.
Title | Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients. |
Publication Type | Journal Article |
Year of Publication | 1995 |
Authors | Burke LW, Jones MC |
Journal | The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association |
Volume | 32 |
Issue | 1 |
Pagination | 77-84 |
Date Published | 1995 Jan |
Abstract | Eight cases of Kabuki syndrome in non-Japanese patients are presented. (Although the name Kabuki Make-up syndrome has been used to identify this condition, the authors recommend that the term "make-up" be deleted from the designation as it has caused problems with some of the families.) Clinical features include a characteristic faciesi, developmental delay, musculoskeletal abnormalities, and dermatoglyphic differences. The phenotypei appears to evolve over time making the diagnosis difficult in infancy. The progressive changes in the facial characteristics as well as the musculoskeletal problems suggest an underlying defect of the connective tissuei. Finally, the syndrome appears to be more common in the non-Japanese population than previously appreciated, particularly in the cleft palatei population. |
Alternate Journal | Cleft Palate Craniofac. J. |
Citation Key | 7727492 |
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