[Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case]
Title | [Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case] |
Publication Type | Journal Article |
Year of Publication | 1999 |
Authors | Silva EO, Freitas EM, Costa SM, Duarte AR |
Journal | Jornal de pediatria |
Volume | 75 |
Issue | 5 |
Pagination | 367-9 |
Date Published | 1999 Sep-Oct |
Abstract | OBJECTIVE: To describe an atypicali case of Down syndrome presenting with additional clinical manifestations that might be components of Kabuki (Niikawa-Kuroki) syndrome.CLINICAL REPORT: We report the clinical history of a 19-month-old girl with a 47,XX, +21 karyotypei, who presented brachycephaly, flat face, long palpebral fissuresi, eversioni of the laterali portion of the lower eyelids, arched eyebrows with sparse lateral regions, long eyelashes, epicanthusi, corticali cataracti, small ears, protruding tongue, muscular hypotonia, developmental delay, hyperflexibility of joints, brachydactylyi, and dermatoglyphic abnormalities.CONCLUSION: The diagnosis of Down syndrome was confirmed cytogenetically. However, the presence of additional anomalies - mainly in the oculari region - suggested that the child might also have the Kabuki syndrome. |
Alternate Journal | J Pediatr (Rio J) |
Citation Key | 14685516 |
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