Growth pattern in Kabuki syndrome with a KMT2D mutation

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.
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research