A rare case of lethal Raine syndrome presenting with facial dysmorphism and pyriform aperture stenosis

Abstract

Raine syndrome is a very rare autosomal recessive disorder characterized by osteosclerosis, periosteal bone formation and distinct facial abnormalities that include microcephaly and low set ears osteosclerosis, cleft palate, gum hyperplasia, broad and depressed nasal bridge and proptosis. Patients affected with this syndrome have a mutation in FAM20C gene located on 7p22.3. This gene is responsible for phosphorylation of Serine residues on an enzyme casein kinase which helps in mineralisation of the bones.