Galán-Gómez E, Cardesa-García J J, Campo-Sampedro F M, Salamanca-Maesso C, Martínez-Frías M L, Frías J L
Departamento de Pediatría, Hospital Universitario Regional Infanta Cristina, Facultad de Medicina, Universidad de Extremadura, Badajoz, Spain.
Am J Med Genet. 1995 Nov 20;59(3):276-82. doi: 10.1002/ajmg.1320590303.
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. Congenital heart defects were present in 4 patients. In addition, one had myopia, astigmatism, and bilateral paralysis of the VI cranial nerve. Another had apparent fusion 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.
