CUL7 and 3-M syndrome: In this study, we report a female pediatric 3M syndrome case from a non-consanguineous Chinese family with the novel CUL7 compound heterozygous variants NM_014780.5: c.1639_1640del (p.Leu547Alafs*6) and NM_014780.5: c.4505T>C (p.Ile1502Thr), expanding the genetic spectrum of CUL7-associated 3M syndrome in the Chinese population.