Osteogenesis imperfecta (OI), also known as Lobstein's syndrome or Vrolik's syndrome, comprises a heterogeneous and rare group of genetic disorders of the connective tissue. It is characterized by an increased bone fragility, low bone mass, and susceptibility to bone fractures of variable severity...
Among the most important disorders found in this region are Ehlers–Danlos syndrome type VIIB (MIM 130060), osteogenesis imperfecta types II to IV (MIM 166210, 259420, 166220), neonatal-onset type II citrullinemia (MIM 605814), and split hand/split foot malformation 1 (SHFM1; MIM 183600). ...
lessens at puberty. Type II osteogenesis imperfecta, the result of a recessive gene, is more severe and less common than type I. The child at birth suffers from countless fractures, andlife expectancyis short. The fundamental defect in this disorder appears to involve the synthesis of collagen ...
A case of screw fixation of femur neck fracture with the use of computer navigation in a woman with osteogenesis imperfecta Background: A critical immediate determinant of survival after exposure to blast overpressure (BOP) is cardiovascular and respiratory impairment related to... FC Chung,CK Wai...
Osteogenesis imperfecta (OI), also known as Lobstein's syndrome or Vrolik's syndrome, comprises a heterogeneous group of rare genetic connective tissue disorders. It is characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures of variable severity. Originally named...
Osteogenesis imperfecta is the commonest connective tissue hereditary disease. Its clinical presentation has a wide spectrum of characteristics, which includes skeletal deformities and hearing loss. We describe three case reports of individuals carriers of this disease presenting with different patterns of ...
Osteogenesis imperfecta: An orthopedic description and surgical review : John D. King and W. P. Bobetchko. J. Bone Joint Surg. 53B:72–89, 1971doi:10.1016/0022-3468(71)90928-6A.H.AlterSDOSJournal of Pediatric Surgery
osteogenesis imperfectaincidenceprenatal diagnosisultrasonographyComplete ascertainment of lethal neonatal short-limb chondrodysplasias was attempted in the West of Scotland for the period 1970-1983. Forty-three cases were identified, representing a minimum incidence of 1 in 8,900. The differential diagnosis...