Although deletions of the whole CYP26B1 gene have not yet been reported in humans, homozygous point mutations of CYP26B1 were reported in two families, resulting in prenatal and early postnatal lethality, skeletal and craniofacial abnormalities, fusion of long bones, calvarial bone hypoplasia and sutural defects, resulting in craniostenosis and brachycephaly [16]. This evidence concerns the gene CYP26B1 and Brachycephaly.