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

Journal Article · Mon Nov 20 04:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320590303· OSTI ID:447077

Galan-Gomez, E

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. 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. 30 refs., 6 figs., 2 tabs.

• Sponsoring Organization: USDOE
• OSTI ID: 447077
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 59; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HETEROCHROMOSOMES
HUMAN CHROMOSOME 15
HUMAN CHROMOSOME 17
KARYOTYPE
MENTAL DISORDERS
PATIENTS
PHENOTYPE
SPAIN