[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 TypeJournal Article
Year of Publication1999
AuthorsSilva EO, Freitas EM, Costa SM, Duarte AR
JournalJornal de pediatria
Volume75
Issue5
Pagination367-9
Date Published1999 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 JournalJ Pediatr (Rio J)
Citation Key14685516