To the Editor:
Kabuki syndrome (KS), described by Niikawa (1) and Kuroki (2), occurs in about 1 in 32,000 newborns (3) and is characterized by specific facial dysmorphism, mild to moderate mental retardation, short stature, skeletal abnormalities, prominent fingertip pads and a probably autosomal dominant inheritance. The patients that partially overlap these manifestations are included in the KS-like phenotype group. Up to now, no genetic basis was established, even if several cytogenetic abnormalities detected by karyotype, CGH and FISH have been reported. In particular, an association with different sex chromosomal anomalies (SCA) was reported. Read the rest of this entry »
