Raine Syndrome, Very Rare Severe Lethal Autosomal Recessive Osteosclerotic Dysplasia. Reporting First Known Case with A Novel Mutation in the FAM20C Gene from Iran

syndrome is a very rare hereditary lethal skeletal dysplasia. There are few reports of milder phenotypes that patients were survived till late childhood. Radiologic investigations showed increased bone density and osteosclerosis. The increased density of bones in head and face causes a characteristic dysmorphic features that includes: prominent and narrow forehead، proptosis، small hypoplstic nose with depressed nasal bridge، mid-face hypoplasia، triangular moth، coanal atresia، and intracranial cerebral calsification. Osteosclerosis is severe enough that would be mistaken with osteopetrosis. Raine syndrome is a hereditary autosomal recessive disease. The cause of it is a homozygous or compound heterozygous mutation in the FAM20C gene. The gene encodes a phosphorylase-kinase which is responsible for biomineralization of skeleton. Here we report a typical patient of this syndrome from Iran، and to our knowledge this is the first confirmed one in our population. Molecular analysis showed a homozygous novel mutation in the FAM20C gene. This patient is the 17th reported case in the relevant literature.