Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. There have been few prior detailed descriptions of strabismus or stereopsis in these patients. We report a patient with Kabuki syndrome who showed small-angle strabismus and poor stereopsis. This case illustrates the ne...

Received Jun 12, 2016 Revised Aug 18, 2016 Accepted Aug 29, 2016 Script writing art in the lives of Balinese people has a very important function, particularly in terms of writing a sacred script such as writing an inscription on copper plate, bronze, silver, and gold, by using a penknife which required a persistence, patience, skill and experience by itself, since not all Balinese people is ab...

The bare form palu (1b) is used to express the Undergoer Voice (UV) in Balinese. It can be analysed as having a zero prefix, represented by Ø-, on the basis of systematic formal opposition with the other forms in (1). The zero prefix is a marker prefix in the same morphological slot as other voice markers in Balinese grammar, namely, the Actor Voice (AV) prefix N-, the passive (PASS) prefix ka-...

Kabuki syndrome was first described in Japan in 1981 as a rare disorder of unknown cause. Its main features include characteristic facies, postnatal growth retardation, and mental delay. To date, there is no molecular marker for Kabuki syndrome, which is considered genetically heterogeneous and still is a clinically-based diagnosis. Here we describe the first case of a patient affected by Kabuk...

BACKGROUND Kabuki (Niikawa-Kuroki) syndrome comprises a characteristic facial appearance, cleft palate, congenital heart disease, and developmental delay. Various cytogenetically visible chromosomal rearrangements have been reported in single cases, but the molecular genetic basis of the condition has not been established. A recent report described a duplication of 8p22-p23.1 in 13/13 patients....