The proband also carried a paternally inherited heterozygous in-frame deletion in COL11A1 [NM_001854.4: c.3874_3879del; p.(Pro1292_Pro1293del); likely pathogenic (ACMG Class 4)], a gene where heterozygous variants are associated with deafness (DFNA37, OMIM 618533), Marshall syndrome (MRSHS, OMIM 154780) and Stickler syndrome type II (STL2, OMIM 604841). This evidence concerns the gene COL11A1 and Marshall syndrome.