IFT140 and polydactyly: WES revealed the presence of compound heterozygous IFT140 variants NM_014714.3 (c.2650C > T; p.Arg884Trp) and NM_014714.3 (c.4309G > A; p.Glu1437Lys), resulting in a diagnosis of short-rib thoracic dysplasia 9 (SRTD 9) with or without polydactyly (MIM 266920, up to 20 patients reported worldwide).