Variable expressivity in a family with Kabuki make-up (Niikawa-Kuroki) syndrome.

TitleVariable expressivity in a family with Kabuki make-up (Niikawa-Kuroki) syndrome.
Publication TypeJournal Article
Year of Publication2004
AuthorsHou J-W
JournalChang Gung medical journal
Date Published2004 Apr

Kabuki make-up syndrome (KS), also called Niikawa-Kuroki syndrome, is a rare congenitali disorder of unknown etiologyi. Most KS cases occur sporadically and familial KS had never been reported in Taiwan. I describe four individuals in one family with KS. Significant intrafamilial variability in the clinical expression of this syndrome is evident. In addition to the typical craniofacial dysmorphismi and cleft palatei and/or cleft lip that the three children inherited from their father, rare anomalies such as lower lip pits and growth hormone deficiency in one girl and right-sided acrotia in one boy were noted. High-resolution banding did not detect any chromosomal structural anomalies. These findings further suggested the autosomal inheritance (from the father to two sons and one daughter) in KS and highlighted the overlapping phenotypei with van der Woude syndromei.

Alternate JournalChang Gung Med J
Citation Key15239198