PMID: 15239198Jul 9, 2004Paper

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

Chang Gung Medical Journal
Jia-Woei Hou

Abstract

Kabuki make-up syndrome (KS), also called Niikawa-Kuroki syndrome, is a rare congenital disorder of unknown etiology. 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 dysmorphism and cleft palate 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 phenotype with van der Woude syndrome.

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Related Papers

Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery
Ulvi GunerArman Cagdas
The Journal of Clinical Pediatric Dentistry
N M KingA M E Sanares
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
M A OnofreR Taga
Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Società Italiana Di Dermatologia E Sifilografia
P G Calzavara PintonC Leali
© 2022 Meta ULC. All rights reserved