Raine syndrome
Definition:
Raine syndrome or lethal osteosclerotic bone dysplasia is an autosomal recessive disorder characterized by generalized osteosclerosis and characteristic facial dysmorphism. Death in the neonatal period is due to respiratory failure. Radiographic studies have shown generalized increase in the density of all bones and the basal structures of the skull, which leads to the characteristic facial features including microcephaly, proptosis, hypoplastic nose and midface, small jaw, and cleft palate.
References:
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[1]. A E Kan, et al. New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). Am J Med Genet. 1992 Jul 15;43(5):860-4. [Content Brief]
[2]. M A Simpson, et al. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Am J Hum Genet. 2007 Nov;81(5):906-12. [Content Brief]
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