Additionally, a heterozygous novel variant in the COL1A2 gene was assumed to have originated de novo in a foetus conceived through egg donation showing clinical features consistent with skeletal dysplasia (i.e., severe hypoplasia of the upper and lower limbs, short ribs and thoracic hypoplasia, trigonocephaly and metopic craniosynostosis). Here, COL1A2 is linked to skeletal dysplasia.