CILK1 and endocrine-cerebro-osteodysplasia syndrome: Homozygosity mapping and whole-exome sequencing in the affected fetus revealed a novel homozygous missense mutation in ICK (c.358G > T; p.G120C), confirming that disruptions in this gene cause ECO syndrome, a disorder that shows marked clinical overlap with the short-rib thoracic dysplasia syndromes (SRTD), Majewski and Mohr-Majewski in particular [1].