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

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. 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.

Authors:
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
447077
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 59; Journal Issue: 3; Other Information: PBD: 20 Nov 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HEREDITARY DISEASES; GENETICS; PATIENTS; PHENOTYPE; MENTAL DISORDERS; CONGENITAL MALFORMATIONS; SPAIN; HUMAN CHROMOSOME 15; CHROMOSOMAL ABERRATIONS; GENETIC MAPPING; HUMAN CHROMOSOME 17; HETEROCHROMOSOMES; GENES; KARYOTYPE

Citation Formats

Galan-Gomez, E, and Cardesa-Garcia, J.J. Campo-Sampedro, F.M. Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children. United States: N. p., 1995. Web. doi:10.1002/ajmg.1320590303.
Galan-Gomez, E, & Cardesa-Garcia, J.J. Campo-Sampedro, F.M. Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children. United States. https://doi.org/10.1002/ajmg.1320590303
Galan-Gomez, E, and Cardesa-Garcia, J.J. Campo-Sampedro, F.M. 1995. "Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children". United States. https://doi.org/10.1002/ajmg.1320590303.
@article{osti_447077,
title = {Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children},
author = {Galan-Gomez, E and Cardesa-Garcia, J.J. Campo-Sampedro, F.M.},
abstractNote = {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.},
doi = {10.1002/ajmg.1320590303},
url = {https://www.osti.gov/biblio/447077}, journal = {American Journal of Medical Genetics},
number = 3,
volume = 59,
place = {United States},
year = {Mon Nov 20 00:00:00 EST 1995},
month = {Mon Nov 20 00:00:00 EST 1995}
}