Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.

TitleKabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.
Publication TypeJournal Article
Year of Publication1995
AuthorsGalán-Gómez E, Cardesa-García JJ, Campo-Sampedro FM, Salamanca-Maesso C, Martínez-Frías ML, Frías JL
JournalAmerican journal of medical genetics
Volume59
Issue3
Pagination276-82
Date Published1995 Nov 20
Abstract

We describe 5 Spanish children with Kabuki make-up syndrome (KMS)-3 females and 2 males-identified in Badajoz, Spain, between 1988 and 1990. All had the characteristic clinical and radiological manifestations of the syndrome. Psychomotor/mental retardation, postnatal growth deficiency, distinctive facial appearance, sagittal vertebral clefts, and dermatoglyphic abnormalities were present in all 5. Congenitali heart defects were present in 4 patients. In addition, one had myopiai, astigmatismi, and bilaterali paralysis of the VI cranial nerve. Another had apparent fusioni of the hamate and capitate. An additional patient, as well as his mother, had an apparently balanced 15/17 translocation [46,XY,t(15;17) (15q;21q)]. The fact that these patients were ascertained in a catchment area of approximately 250,000 inhabitants and in a relatively limited period of time suggests that the prevalence of the KMS may be higher than previously recognized.

Alternate JournalAm. J. Med. Genet.
Citation Key8599349