Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

TitleKabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.
Publication TypeJournal Article
Year of Publication1988
AuthorsNiikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H
JournalAmerican journal of medical genetics
Date Published1988 Nov

These 62 patients with the Kabuki make-up syndrome (KMS) were collected in a collaborative study among 33 institutions and analyzed clinically, cytogenetically, and epidemiologically to delineate the phenotypic spectrum of KMS and to learn about its cause. Among various manifestations observed, most patients had the following five cardinali manifestations: 1) a peculiar face (100%) characterized by eversioni of the lower laterali eyelid; arched eyebrows, with sparse or dispersed lateral one-third; a depressed nasali tip; and prominent ears; 2) skeletal anomalies (92%), including brachydactylyi V and a deformed spinal column, with or without sagittal cleft vertebraei; 3) dermatoglyphic abnormalities (93%), including increased digital ulnar loop and hypothenar loop patterns, absence of the digital triradius c and/or d, and presence of fingertip pads; 4) mild to moderate mental retardation (92%); and 5) postnatal growth deficiency (83%). Thus the core of the phenotypic spectrum of KMS is rather narrow and clearly defined. Many other inconsistent anomalies were observed. Important among them were early breast development in infant girls (23%), and congenitali heart defects (31%), such as a single ventriclei with a common atriumi, ventricular septal defecti, atrial septal defect, tetralogy of Falloti, coarctationi of aortai, patenti ductus arteriosusi, aneurysm of aorta, transposition of great vesselsi, and right bundle branch block. Of the 62 KMS patients, 58 were Japanese, an indication that the syndrome is fairly common in Japan. It was estimated that its prevalence in Japanese newborn infants is 1/32,000. All the KMS cases in this study were sporadic, the sex ratio was even, there was no correlation with birth order, the consanguinityi rate among the parents was not high, and no incriminated agent was found that was taken by the mothers during early pregnancy. Three of the 62 patients had a Y chromosomei abnormality involving a possible common breakpoint (Yp11.2). This could indicate another possibility, i.e., that the KMS gene is on Yp11.2 and that the disease is pseudoautosomal dominant. These findings are compatible with an autosomal dominant disorder in which every patient represents a fresh mutation. The mutation rate was calculated at 15.6 X 10(6).

Alternate JournalAm. J. Med. Genet.
Citation Key3067577