COL2A1 and craniosynostosis: Our study revealed that variants in six (54.5%) of the eleven identified genes may result in skeletal abnormalities, including FLNB, COL2A1, COL11A1, FGFR2, FLNA, and GLI2. Case 11 showed prenatal ultrasound evidence of craniosynostosis and syndactyly of hands and feet, while case 8 demonstrated prenatal ultrasound evidence of micrognathia and bilateral subependymal cysts.