Lethal osteosclerotic bone dysplasia is a rare disorder characterized by generalized osteosclerosis with periosteal new bone formation and distinctive facies. The facial appearance in lethal osteosclerotic bone dysplasia (Raine syndrome) is characterized by a wide anterior fontanelle, exophthalmos and severe depression of the nasal bridge with severe midface hypoplasia. The nose in many cases appears severely hypoplastic but this is not consistent. The mouth is usually triangular. Other abnormalities include gum hypertrophy, natal teeth and cleft palate/uvula.
The radiological findings in lethal osteosclerotic bone dysplasia include generalized osteosclerosis of all bones and the base of the skull with cortical hyperostosis and periosteal new bone formation. The ribs usually appear irregular in shape due tp fractures.
By year 2003, a total of nine cases were described in the world with lethal osteosclerotic bone dysplasia. Of these nine cases, five reported patients were Arabs from Saudi Arabia, Palestine, and Egypt indicating that the gene is probably more common in the region. Parental consanguinity in many of the cases strongly supports suggestions that this is an autosomal recessive disorder.