Osteogenesis imperfecta musculoskeletal medicine for. Children with this condition present extreme bone fragility, frequently culminating with the death in the peri. Craniospinal abnormalities and neurologic complications of. Osteogenesis imperfecta radiology reference article. It has since been modified due to the advance in genetics, with the following classification described by glorieux and rauch. Osteogenesis imperfecta type i conditions gtr ncbi.
The partially reconstructed skull is the remains of an egyptian mummy, origins dated circa bc. Radiographic features of osteogenesis imperfecta ncbi nih. Oi reveals multiple wormian bones embedded in the lambdoid sutures. An incidence of 1 to 20,000 to 1 in 60,000 infants with imperfect osteogenesis type ii is reported in mexico. Living donor liver transplantation for an infant with osteogenesis imperfecta and intrahepatic cholestasis. Osteogenesis imperfecta oi, also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems with the teeth. In oi type iii, specifically, a diagnosis can often be made shortly after birth as fractures broken bones during the newborn period simply from handling the infant are common. Pathophysiology and therapeutic options in osteogenesis imperfecta. The condition is seen at all ages, chiefly in the infant, and often in utero. Osteogenesis imperfecta type iii genetic and rare diseases. Thought to be remains of a monkey, a first further investigation by paleopathologists revealed that these findings are more consistent with the remains of an infant affected by osteogenesis imperfecta oi. Dec 02, 2015 osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones.
Osteogenesis imperfecta congenita lethal perinatally or before 1st year of life. Wormian bones in the sutures of the skull, and may be of decreased height and have skeletal deformity. Craniofacial manifestations in osteogenesis imperfecta type iii in. Description of oi oi is a disorder of collagen, a protein which forms the framework for the bone structure. Complications may include cervical artery dissection. Oi treatments are designed to prevent or control symptoms and vary from person to person. It is a worldwide extensive disorder regardless of age, gender or ethnic group for a children and adults. Osteogenesis imperfecta type iv genetic and rare diseases. Fellow in orthopedic surgery, mayo foundation ralph k. A rare existence of significant number of wormian bones in. Mutant procollagen chains unable to incorporate into heterotrimers are retrotranslocated into the cytosol and degraded by the erad pathway 1. The collagenencoding genes that are most commonly impaired are col1a1 and col1a2. The contributi on of prenatal sonographic diagnosis of.
Osteogenesis imperfecta oi is an inherited bone and connective tissue disorder associated with the lifelong occurrence of frequent fractures following even mild trauma. Oi has been recognised as a disease entity since the. Introduction osteogenesis imperfecta oi is a heritable disorder of bone formation that may affect more than 1. This is said to be the first recorded observation of this condition. The clinical features of col1a12oi represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a. Basilar impression complicating osteogenesis imperfecta. It was given its present name of osteogenesis imperfecta by vrolik in 1849. These are irregular isolated bones that can appear in addition to the usual centres of ossification of the skull and, although unusual, are not rare. Further detail can be found on the osteogenesis imperfecta foundation website 1,2,4.
Craniovertebral junction in osteogenesis imperfecta e154 introduction osteogenesis imperfecta oi, also referred to as brittle bone disease, is a genetic disorder of connective tissue that causes increased bone fragility and low bone mass. The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well as, blue sclera, dental fragility and hearing loss. Acute aortic dissection in a patient with osteogenesis. The remaining types are characterized by abnormal type 1. Audiological findings in osteogenesis imperfecta doi. Type i oi is the most common, affecting 1 in 30,000 births. Pdf imaging findings in osteogenesis imperfecta researchgate. Las osteogenesis imperfectas revision del tema scielo. Recognize the major clinical signs of osteogenesis imperfecta. Some radiographic features depend on the type of oi or may be. Early intervention is important to ensure optimal quality of life and outcomes. Oi type iv is the most variable form of the condition with symptoms ranging from moderately severe to so mild that it may be difficult to make the diagnosis. Wormian bones in the sutures of the skull, and may be of decreased height and.
Treatment for oi and its related symptoms may include. Section on roentgenology, mayo clinic, rochester, minnesota excerpt armand, in 1716, reported a case of brittle bones of a newborn infant. In addition to fractures broken bones, people with oi sometimes have muscle weakness, loose joints joint laxity, curvature of the spine scoliosis, brittle teeth. Some patients with osteogenesis imperfecta experience ligamentous laxity, joint hyperflexibility, and dental abnormalities. Pathophysiology and therapeutic options in osteogenesis. Rme therapy to assess the opening of the midpalatal suture and 1 year after the. It is caused by a mutation to the gene that controls the production of collagen, which gives strength to the structure of bone and connective tissue and is found in bone, muscle, ligaments, skin, eyes, ears and heart muscle. Osteogenesis imperfecta an overview sciencedirect topics. Glorieux, frank rauch, in dynamics of bone and cartilage metabolism second edition, 2006 i. Janna waltimosiren,1,2 marina kolkka,1 seppo pynno nen,3 kaija kuurila,4 ilkka kaitila,5 and outi kovero6. They occur most frequently in the course of the lambdoid suture, which is more tortuous than other sutures. Its most striking feature is that fractures may occur easily.
Discuss the major types of osteogenesis imperfecta. Osteogenesis imperfecta oi is a congenital genetic disorder with skeletal or extraskeletal manifestations. She has a skeletal class iii malocclusion with a prognathic mandible 1 and an anterior crossbite 2. Osteogenesis imperfecta is a bone disorder characterized by increased bone fragility, decreased bone mass between others. Col1a12 osteogenesis imperfecta col1a12oi is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta di, and, in adult years, hearing loss. Osteogenesis imperfecta type iii oi type iii is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Wormian bones, lambdoid suture, lambda, inca bone, osteogenesis imperfecta 1. Osteogenesis imperfecta tarda fragile bones with fractures occurring after minimal trauma.
Osteogenesis imperfecta type i genetic and rare diseases. What are the treatments for osteogenesis imperfecta oi. A child born with oi may have soft bones that break fracture easily, bones that are not formed normally, and other problems. Osteogenesis imperfect is a rare disease with a global prevalence of 67 in 100,000 births.
Osteogenesis imperfecta, also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. This disorder is relatively rare with a composite incidence. Therefore it is frequently called brittle bone disease. Osteogenesis imperfecta oi is a heterogeneous rare connective tissue disorder commonly caused by mutations. Wormian bones in the sutures of the skull, and may be of decreased heigh. Osteogenesis imperfecta revista espanola endocrinologia.
List the types and clinical features of osteogenesis imperfecta oi, including the potential overlap with abuse. Describe the role imaging professionals play in diagnosis and treatment. There are four main types of osteogenesis imperfecta. Osteogenesis imperfecta oi is a genetic condition present from birth. Osteogenesis imperfecta, bone, type i colla gen, gene mutation.
Osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily. Osteogenesis imperfecta oi is a rare disorder of type 1 collagen with currently identified types attributable to inherited abnormalities in type 1 collagen amount, structure, or processing. Osteogenesis imperfecta deutsche gesellschaft fur osteogenesis. Osteogenesis imperfecta oi is a heritable disorder of bone formation that may affect more than 1. Double valve replace ment in a patient with osteogenesis imperfecta. Report of a case youngrok choi, 1 namjoon yi, 1 jae sung ko, 2 jung min ko, 2 ung sik jin, 3 hee soo kim, 4 kook hyun lee, 4 taejoon cho, 5 sukwon suh, 1 tae yoo, 1 kwangwoong lee, 1 and kyungsuk suh 1. Osteogenesis imperfecta is a connective tissue disease characterized by extremely fragile bones due to an autosomal dominant genetic defect in type 1 collagen production. This is a disease which involves the tissues developing from the primitive mesenchyme. Diagnosis of osteogenesis imperfecta oi was confirmed and treatment with cyclic. Osteogenesis imperfecta type iv oi type iv is a type of osteogenesis imperfecta, which refers to a group of conditions that affect the bones. Jan 14, 2016 osteogenesis imperfecta type iv oi type iv is a type of osteogenesis imperfecta, which refers to a group of conditions that affect the bones.
The bone fragility has led to the adoption of the lay. Craniofacial features in osteogenesis imperfecta wiley online library. Mutations in either col1a1 or col1a2 are translated into collagen. Oi has been divided in 5 different types type 15 based on clinical and radiological features, with oi. Typical clinical features are brittle bone, high frequency of fractures and bone deformities. The characteristic feature is brittleness of the bones, with varying numbers of fractures, often following slight trauma. Excerpt osteogenesis imperfecta or fragilitas ossium has been described since the 18th century. Osteogenesis imperfecta oi is an inherited genetic bone disorder that is present at birth. Osteogenesis imperfecta type 1 is the mildest form of oi and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Wormian bones, also known as intrasutural bones or sutural bones, are extra bone pieces that can occur within a suture joint in the skull. In case of doubt and when a termination of pregnancy is being. Radiotherapy late effects and osteogenesis imperfecta. A cephalometric method to diagnosis the craniovertebral.
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