Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild ... Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae (summary by Lapunzina et al., 2010).
Lapunzina et al. (2010) reported an 8-year-old Egyptian boy with osteogenesis imperfecta and normal sclerae, who was born to consanguineous parents related as second cousins. Clinical features included recurrent fractures, mild bone deformities, delayed tooth eruption, and normal ... Lapunzina et al. (2010) reported an 8-year-old Egyptian boy with osteogenesis imperfecta and normal sclerae, who was born to consanguineous parents related as second cousins. Clinical features included recurrent fractures, mild bone deformities, delayed tooth eruption, and normal hearing. The family had a history of a similarly affected sib who, in addition to OI, was diagnosed with a congenital heart condition and died at the age of 4 years.
In an 8-year-old Egyptian boy with osteogenesis imperfecta and normal sclerae, Lapunzina et al. (2010) identified a homozygous single basepair deletion in the SP7/OSX gene (606633.0001). The parents were heterozygous for the mutation.