title: Congenital osteogenesis imperfecta in three sibs.
abstract: Three sibs of a Turkish family were affected with lethal congenital osteogenesis imperfecta (OI). The disease was characterized by extremely fragile bones and crumpled femora, but in contrast to reported cases of OI type II, relatively normal ribs with only few fractures. The children affected died shortly after birth. Although their parents both came from the same small village in Turkey, consanguinity could not be demonstrated. Our observations support that this disorder is inherited in an autosomal recessive mode. We consider the possibility that these patients represent either a new subgroup of OI type II (milder, although still lethal) or of type III (more severe).
mesh_terms: D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010375:Pedigree; D012306:Risk