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Growth pattern in Kabuki syndrome with a KMT2D mutation.
Schott, Dina A; Blok, Marinus J; Gerver, Willem J M; Devriendt, Koenraad; Zimmermann, Luc J I; Stumpel, Constance T R M.
Afiliación
  • Schott DA; Department of Paediatrics Endocrinology, Zuyderland Medical Centre, Heerlen, The Netherlands.
  • Blok MJ; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands.
  • Gerver WJ; Department of Paediatrics Endocrinology, Maastricht UMC+, Maastricht, The Netherlands.
  • Devriendt K; Centre for Human Genetics, University of Leuven, Leuven, Belgium.
  • Zimmermann LJ; Department of Paediatrics Neonatology, Maastricht UMC+, Maastricht, The Netherlands.
  • Stumpel CT; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands.
Am J Med Genet A ; 170(12): 3172-3179, 2016 12.
Article en En | MEDLINE | ID: mdl-27530205
ABSTRACT
Kabuki syndrome is a multiple congenital malformation syndrome with a spectrum of clinical features including short stature. Since there is no growth data on Kabuki syndrome patients with a proven KMT2D gene mutation, further research on growth and growth patterns is indicated. Data for this growth study on subjects with Kabuki syndrome were collected from referring clinicians. Subjects were eligible for inclusion in the study if the following criteria were met a genetically confirmed diagnosis of Kabuki syndrome and no current treatment with growth hormones or other drugs that could influence growth. We present a report on growth data (n = 39) in Kabuki syndrome patients. The data showed that postnatal growth retardation is a clinical feature in all cases. All Kabuki syndrome subjects showed a growth deflection during childhood and a diminution of the pubertal growth spurt. A genotype-phenotype correlation was not observed. Further research is required in order to determine whether a defect in the growth hormone/IGF-I axis and estrogen receptor plays a role in the growth retardation. © 2016 Wiley Periodicals, Inc.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Enfermedades Vestibulares / Discapacidades del Desarrollo / Proteínas de Unión al ADN / Cara / Enfermedades Hematológicas / Discapacidad Intelectual / Proteínas de Neoplasias Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Países Bajos

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Enfermedades Vestibulares / Discapacidades del Desarrollo / Proteínas de Unión al ADN / Cara / Enfermedades Hematológicas / Discapacidad Intelectual / Proteínas de Neoplasias Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Países Bajos