ECEL1 and osteogenesis imperfecta: FGFR3 associated with achondroplasia (100,800) were identified in 3 cases, 4 cases of Asphyxiating Thoracic Dystrophy 3 (613,091) were caused by DYNC2H1. In the remaining 4 cases, each was found with P/LP variants in COL1A1 associated with Osteogenesis Imperfecta, Type I (166,200), NEB gene associated with Arthrogryposis Multiplex Congenital 6 (619,334), SALL4 associated with Duane-radial Ray Syndrome (607,323), ECEL1 associated with Arthrogryposis, Distal, Type 5d (615,065), respectively.