CHARGE syndrome is a complex developmental disorder caused by mutations in the chromodomain helicase DNA-binding gene CHD7. Kabuki syndrome, another developmental disorder, is characterized by typical facial features in combination with developmental delay, short stature, prominent digit pads and visceral abnormalities. Mutations in the KMT2D gene, which encodes a H3K4 histone methyltransferase...

BACKGROUND AND OBJECTIVES The aim of this case was to describe the anesthetic approach to a patient with Kabuki syndrome. CASE REPORT A patient with Kabuki syndrome had revision surgery for scoliosis. On physical examination, shown were long palpebral fissures, large, prominent fissures with an eversion of the lateral third of the lower eyelids, large, prominent malformed ears with low implan...

0. Introduction This paper argues for the significance of argument structure and linear order in the binding conditions of Balinese (an Austronesian language with about 3,000,000 speakers, primarily on the islands of Bali and western Lombok, Indonesia). Our analysis employs the theory of prominence due to Bresnan (1995a,b). We show that linear order, thematic prominence, and the term/oblique di...

We report a Japanese female patient presenting with classic features of CHARGE syndrome, including choanal atresia, growth and development retardation, ear malformations, genital anomalies, multiple endocrine deficiency, and unilateral facial nerve palsy. She was clinically diagnosed with typical CHARGE syndrome, but genetic analysis using the TruSight One Sequence Panel revealed a germline het...

We report our experience with a case of Kabuki syndrome complicated by multiple anomalies requiring surgery. The patient was a male infant born at 41 weeks 5 days gestation, weighing 4,468 g, who presented with an imperforate anus and cleft palate. A radical operation was performed under a diagnosis of low imperforate anus without fistula. However, an anastomotic leakage occurred, requiring a c...

We present monozygotic twin boys with features of Kabuki syndrome. The twins were discordant for cleft palate and coarctation of the aorta. The occurrence of Kabuki syndrome in monozygotic twins has not been previously reported and reinforces the belief that this condition has a genetic basis. Chromosomal analysis on the boys showed a pseudodicentric chromosome 13 with an inactive centromere an...