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A case of osteogenesis imperfecta complicated with acute type A aortic dissection is presented. Emergency graft replacement of the ascending aorta was performed successfully despite the anticipated difficulties with tissue friability. Therefore, such an operation is suggested to be worthy of consideration and feasible in patients with osteogenesis imperfecta.
Osteogenesis imperfecta may be difficult to differentiate from nonaccidental trauma. Social history may prejudice the physician in favor of or against considering the diagnosis of child abuse. Three cases of osteogenesis imperfecta that were initially diagnosed as nonaccidental trauma are presented. The availability of biochemical analysis of type I collagen was instrumental in confirming the diagnosis of osteogenesis imperfecta in all three cases.
Our clinical files on osteogenesis imperfecta are brought up-to-date reviewing a total of 33,555 cases admitted between 4/XII/48 and 31/VIII/76. From these, 5 clinical cases were found. The extreme rareness of this regional pathology in our Cátedra y Sericio de Pediatría, which is the largest concentration center in Paraguay had led us to make this publication. From our casuistics, we may single out a three-month-old infant which would be a case of congenital osteogenesis imperfecta. The remaining 4 would correspond to cases of late osteogenesis imperfecta. Generalized osteoporosis was present in 3 patients and all of them showed blue sclera the same as fractures of femur. Fractures of radius, tibia and fibula were seen in 2 cases. The humerus was fractured in one patient and the ulna in another one. Three patients were under one year old, another one was on his second year and the last one was a school ager. An audiologic examination was normal in the nine-year-old patient. In the other 4 cases, it was not possible to carry out such test.
Dentinogenesis Imperfecta (DI), in which the teeth are discolored, translucent and brittle, can occur in isolation as a familial trait and as a component of the skeletal dysplasia Osteogenesis Imperfecta (OI). In a Cape Town family, 20 persons in 3 generations had mild OI, with the additional manifestation of severe DI. The family was assessed at the Dental Genetic Unit of the University of the Western Cape and appropriate dental treatment was provided. In this setting, a detailed treatment plan was devised for a severely affected woman. This plan proved to be efficient and cost effective, and the final outcome was pleasing to the patient. Dentinogenesis Imperfecta is not uncommon and may well be encountered in conventional dental practice. The necessary clinical expertise is within the scope of the skills of the general dentist.
This paper presents a review of dentinogenesis imperfecta occurring in patients with osteogenesis imperfecta. The systemic manifestations and the oral aspects of dentinogenesis imperfecta in osteogenesis imperfecta are discussed, and an illustrative case is described.
Cardiovascular abnormalities are infrequently documented in osteogenesis imperfecta, one of a group of hereditary, generalized connective tissue disorders. A patient with osteogenesis imperfecta is described with mitral valve prolapse, significant coronary artery disease and a coronary artery aneurysm. The latter two cardiac defects are apparently rare in this disease. The option of surgery was carefully considered with regard to technical feasibility and potential deterioration of the graft anastomoses. Although successful aortocoronary bypass surgery had not been previously reported in osteogenesis imperfecta, this patient received such surgery with therapeutic benefit. Therefore, coronary artery vascularization should be considered as a safe and effective treatment modality for patients with osteogenesis imperfecta and coexisting coronary atherosclerosis.
Two semiquantitative scoring systems, Clinical Radiographic Score (CRS) and Dysplastic Dentin Score (DDS), were introduced for analyzing degree of dysplastic manifestations in dentin. The utility of both systems was demonstrated in a large material of teeth from patients with dentinogenesis imperfecta (DI) and osteogenesis imperfecta (OI). Twenty teeth from healthy controls, 81 teeth from 40 patients with OI, and 18 teeth with DI without OI (DI type II) were examined. The degree of dysplasia was correlated with type and form of OI and type of DI. The median DDS did not differ between DI associated with OI (DI type I) and DI type II. DDS in OI patients without clinical signs of DI was above that of control teeth. Both circumpulpal and mantle dentin showed increased DDS, although circumpulpal dentin was more severely affected. The median DDS was highest for the most severe type of non-lethal OI (type III). DDS increased significantly with form (severity) of OI. A significant association between DDS and CRS was found, although diagnosis of DI in less severe cases was not possible based on radiographic or clinical signs alone. Thus, the DDS system proved valuable when the CRS system based on radiographic/clinical manifestations failed, the most significant finding being subclinical histological manifestations of DI in patients with OI but without clinical or radiographic signs of DI. These subtle dysplastic changes are most likely an expression of genetic disturbances associated with OI and should not be diagnosed as DI, but rather be termed histologic manifestations of dysplastic dentin associated with OI.
Osteogenesis Imperfecta constitutes a group of anomalies include between the lethal form of the disease and a condition in which the cortical bone is thiness and more breakable. It's frequently associated to dental abnormalities. It's possible to found serious bone alterations associated to regular dentition or on the contrary. The present article reports a clinical case with Osteogenesis Imperfecta Tarda.
Open cardiac procedures in osteogenesis imperfecta have been associated with a high mortality rate. A patient with osteogenesis imperfecta underwent successful aortic valve replacement and coronary artery bypass grafting along with closure of a patent foramen ovale in preparation for a planned hip replacement.
To ascertain if the features of osteogenesis imperfecta could be due to an abnormality in two genetically distinct collagens, Type III and Type I, we measured, in pepsin digests of skin, the ratio of the alpha 1, (III) to alpha 1 (I) chains derived from the two types, using a method of interrupted polyacrylamide-gel electrophoresis. In 40 control subjects this ratio decreased from about 0.45 in early fetal life to a mean (+/-2 S.D.) of 0.14 +/- 0.06 in 14 adults. Seven of nine adult patients with mild osteogenesis imperfecta had ratios of more than 4 S.D., above this mean, as did two of five patients with severe osteogenesis imperfecta. The increased ratio was probably due to a reduction of Type I collagen. If this reduction were generalized it could contribute to the bony fragility of osteogenesis imperfecta, since mineralized bone contains Type I collagen only.
Fifty-six patients with osteogenesis imperfecta underwent clinical and audiological assessment. They completed questionnaires regarding their physical and otological disabilities, and attended various centres for audiological testing. It was found that 31 patients had a hearing loss. Hearing loss began in the second and third decades as a conductive loss, and progressed to a mixed loss. Eight patients, found in all age groups, had a pure sensorineural loss in one or both ears. Patients with osteogenesis imperfecta congenita suffered more fractures, became more physically disabled and had more severe hearing loss than those with osteogenesis imperfecta tarda. Tympanometry was found to give unpredictable results and was unhelpful in assessing middle ear function in these patients.
Osteogenesis imperfecta is a heterogeneous group of connective tissue disorders; it is characterized by blue scleras, bone fragility and deformity secondary to recurring fractures. A case of osteogenesis imperfecta personally observed at the 21st week of gestation is presented.
The perinatal lethal form of osteogenesis imperfecta often results from mutations which disrupt stable assembly, delay secretion, and cause excessive posttranslational modification of type I procollagen molecules. One such mutation was efficiently characterized by an indirect method of RNA sequence analysis. The mutation initially was localized in procollagen by mapping the distribution of abnormal posttranslational modification within the triple helical domain of mutant molecules. Total RNA was isolated from osteogenesis imperfecta cells in culture, cDNA was synthesized using alpha 1(I) and alpha 2(I) specific primers, and fragments of cDNA suspected to harbor the mutation were amplified by the polymerase chain reaction technique and then cloned in M13 vectors. Sequence analysis of the amplified cDNA revealed a new, heterozygous Gly----Val substitution at residue 256 of the triple helical domain of alpha 1(I) chains produced by the perinatal lethal osteogenesis imperfecta cells. The nature and location of the mutation were confirmed by sequence analysis of amplified genomic DNA. A Gly----Val substitution has not previously been associated with the lethal form of osteogenesis imperfecta, and this mutation has the most amino-terminal location within the alpha 1(I) chain triple helical domain reported to date.
AIMS: To determine the causes of death in patients with osteogenesis imperfecta, excluding infants with the perinatal lethal form (type II). METHODS: Seventy nine patients with known osteogenesis imperfecta were identified, 37 of whom had been seen clinically in life. Causes of death were identified from death certificates, postmortem reports, medical records, hospital consultants, relatives, and the Brittle Bone Society's records. RESULTS: Patients with the milder types of osteogenesis imperfecta, I and IV, often had a normal lifespan and died of unrelated illnesses such as myocardial infarction and malignancy. In some of these patients and in many patients with the more severe type III disease, it was clear that osteogenesis imperfecta contributed significantly to death, almost certainly to many of the respiratory deaths and to deaths from cardiac failure due to kyphoscoliosis. Osteogenesis imperfecta also caused six deaths, directly or indirectly, due to basilar invagination of the skull. Osteogenesis imperfecta may have contributed to deaths from intracranial bleeding. Apparently minor traumatic incidents may have disastrous consequences in patients with this disorder. CONCLUSIONS: Prompt care for respiratory infections and prevention of trauma in patients with osteogenesis imperfecta is essential.
Anesthetizing a patient with osteogenesis imperfecta is an uncommon and challenging event for most anesthesiologists. The manifestations of this disease directly affect anesthetic management. The choice of anesthetic technique must be carefully considered in view of the abnormalities in such patients. Local or regional anesthesia is very useful in patients with osteogenesis imperfecta, but when general anesthesia is mandatory ketamine hydrochloride is often a good choice. Close monitoring during anesthesia and surgery is essential.
In general, osteogenesis imperfecta (brittle bone disease) is caused by heterozygous mutations in the genes encoding the alpha 1 or alpha 2 chains of type I collagen (COL1A1 and COL1A2, respectively). In this study we screened these genes in a proband presenting with the severe form (type III) of osteogenesis imperfecta for mutations which might result in the phenotype. Single-strand conformation polymorphism mapping analysis was used to identify a region suspected of harbouring the mutation and subsequent sequence analysis revealed a heterozygous G to A transition in the alpha 2(I) gene of type I collagen in the individual. The resulting substitution of the glycine at position 238 of the alpha chain by serine is the most N-terminal yet reported for this chain.
A case of osteogenesis imperfecta fetalis in a stillborn black male infant is described. Scanning electron microscopic studies of the skeleton showed normal intercartilaginous septa in the metaphyses of long bones, covered by uniform, calcifying globules 1 mum in diameter. In the diaphyses, however, the orientation of bone trabeculae was abnormal. The trabeculae were thin, with wide and densely packed osteocytic lacunae, and with more resorbing surfaces than in the control specimens. It is concluded that in osteogenesis imperfecta there is abnormal periosteal ossification, together with increased osteocytic resorption.
Lethal osteogenesis imperfecta was diagnosed at 27 weeks amenorrea in one fetus of a bichorial twin pregnancy. Sonographic findings included: short-limb dwarfism, hypotrophy and hypoechoic bones. The affected fetus was so translucent that only the normal fetus could be seen on plain in utero radiography. The affected fetus died immediately after birth. Postmortem radiography and histology were typical of lethal osteogenesis imperfecta of type IIA. Aids to the etiological diagnosis of in utero dwarfism are presented. Sonographic features correlated with neonatal death are described.