In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A C).
A short-stature panel genetic test was conducted in accordance with the phenotype of the fetus.
J Immunol 2016;196: 244–255. de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, et al: An XRCC4 splice mutation associated with severe short stature