Synthesis of hyaluronic acid and collagen in skin fibroblasts cultured from patients with osteogenesis imperfecta.

Collagen and hyaluronic acid syntheses were studied in skin fibroblast cultures from patients with osteogenesis imperfecta and age-matched controls by labeling the cultures either with [3H]proline and separating the collagenous proteins with DEAE- and CM-cellulose chromatographies, or double-labeling the cultures with [3H]glucosamine and [14C]glycine and separating radioactive hyaluronic acid from glycoproteins and sulphated proteoglycans by DEAE-cellulose chromatography. The activities of the cell layer hyaluronate synthesizing enzyme complex (hyaluronate synthetase) were also determined. The osteogenesis imperfecta cultures were classified into three variants on the basis of type III collagen synthesis. Type III collagen amounted to approx. 40--50% from total collagen in the first variety and approx. 25--30% in the second variety. No difference was noted in the ratio of type III collagen to total collagen in the third variety in comparison with control cultures. The radioactivities of 3H-labeled hyaluronic acid in DEAE-cellulose chromatograms were compared with those of the 14C-labeled proteins. The ratios ranged 9.2--17.3 in the cultures from the patients and 4.6--8.8 in the control cultures. Hyaluronate synthetase activities were 1.3--2.0-fold higher in the osteogenesis imperfecta cells than in their controls. Increased hyaluronic acid synthesis in skin fibroblasts correlated with the severity of the disease but not with the increase in type III collagen synthesis.

Analysis of cultured chorionic villi in a case of osteogenesis imperfecta type II: implications for prenatal diagnosis.

We examined collagens produced by cultured cells from skin, chorionic villi, and placental membranes of a 32 week fetus with osteogenesis imperfecta (OI) type II. We observed that skin fibroblasts synthesized two populations of pro alpha 1(I) chains of type I procollagen; one population was normal, while the other population had excessive post-translational modification. The thermal stability of helices containing the overmodified chains was reduced 1-2 degrees C. Most significantly, the cells cultured from chorionic villi produced type I collagen chains with the same electrophoretic abnormalities as the skin collagen. This suggests that chorionic villus sampling (CVS) is a means of prenatal diagnosis for families with a previous type II or type IV OI infant.

New case of Cole-Carpenter syndrome.

We describe a girl with a severe progressive type of osteogenesis imperfecta, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. Collagen analysis was normal. These features are consistent with the diagnosis of Cole-Carpenter syndrome. This report provides further evidence for the existence of this rare genetic entity.

Osteoporosis-pseudoglioma syndrome.

Two patients with osteoporosis pseudoglioma syndrome are described. Both are single children, born to nonconsanguineous, healthy parents. The first patient, a 17-year-old girl, had serious visual impairment since birth. She is severely dwarfed and has major skeletal deformities resulting in inability to walk since age 2 years. The second patient is an 18-year-old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs. She has been able to walk with support up to now. The clinical and radiological findings in these 2 patients reflect the clinical variability of the condition. Results of collagen studies in both patients are normal and differentiate this condition clearly from severe osteogenesis imperfecta, which it resembles.

Ocular findings in osteogenesis imperfecta congenita.

Osteogenesis imperfecta is a rare, inherited, connective-tissue disorder. The three main signs of this disease are multiple bone fractures, blue scleras, and deafness (osteosclerotic type). In our research, only a few reports of the morphologic studies of the eyes of patients with osteogenesis imperfecta were found. This report describes the ocular histopathologic condition of four cases of osteogenesis imperfecta congenita, with emphasis on the ultrastructural characteristics of the collagen in the cornea and sclera.

Osteogenesis imperfecta as a complication of pregnancy.

Osteogenesis imperfecta is a complex disorder that rarely complicates pregancy. The successful obstetric management of a patient with severe osteogensis imperfecta is presented along with a detailed review of maternal osteogenesis imperfecta in the recent English literature. A review of the disease process, its complications, and associated disorders is presented.

Acute bilateral extradural hematomas in a case of osteogenesis imperfecta congenita.

Acute bilateral extradural hematomas occurred after apparently trivial trauma in a patient suffering from osteogenesis imperfecta congenita. Factors influencing the development of this dramatic complication are peculiar to this rare disorder of bone and connective tissue development and include bony weakness, increased vascular fragility, and possible coagulopathies.

Histopathology of the temporal bone in osteogenesis imperfecta congenita: a report of 5 cases.

The histopathologic findings in 8 temporal bones from 5 patients with osteogenesis imperfecta congenita are reported. The otic capsule, bony walls of middle ear, and ossicles showed evidence of both deficient and abnormal ossification. Microfractures were found in the otic capsule and in the anterior process and handle of the malleus, in addition to their common location at the crura of the stapes. The cochlear and vestibular end-organs appeared normal. Pathologic changes compatible with otosclerosis were not seen. The possible implication of these changes on hearing and balance is discussed.

[Osteogenesis imperfecta cystica (Fairbank)--a special form of osteogenesis imperfecta congenita (Vrolik) (author's transl)]. / Osteogenesis imperfecta cystica (Fairbank)--eine Sonderform der Osteogenesis imperfecta congenita (Vrolik).

Two patients, aged 13 and 19 years, with osteogenesis imperfecta congenita (Vrolik) have been seen at the rehabilitation centre at Neckargemund. The younger patient showed the typical appearances of osteogenesis imperfecta cystica (Fairbank), while the older patient failed to show these changes in the skeleton. Contrary to the frequently expressed view that patients with osteogenesis imperfecta congenita always die in the perinatal period, they may survive for a considerable length of time. The change of osteogenesis imperfecta congenita (Vrolik) into osteogensis imperfecta cystica (Fairbank) has been described as a sequence in the occasional survivors by Spranger, but is not a necessary condition for survival. Osteogenesis imperfecta cystica should be regarded as an extremely rare special type of Vrolik's disease.

Cardiac reoperation in a patient with osteogenesis imperfecta: a case report.

A case of a 40-year-old man with dehiscence of the prosthetic aortic valve and recurrence of mycotic aneurysm of the left ventricular outflow tract with osteogenesis imperfecta is presented. He had an operation of aortic valve replacement and direct closure of the mycotic aneurysm for infective endocarditis twenty-one months ago. We performed reoperation of prosthetic aortic valve, patch closure of the mycotic aneurysm and graft replacement of the ascending aorta. He was complicated with multiple fractures of bilateral scapla and dislocation of left shoulder one postoperative day. Fortunately, cardiac reoperation was performed successfully in this patient despite anticipated difficulties with tissue friability with osteogenesis imperfecta.

["In utero" diagnosis of congenital fragilitas ossium (osteogenesis imperfecta) (author's transl)]. / Diagnostic "in utéro" d'une fragilité osseuse congénitale.

The authors report a case of congenital fragilitas ossium diagnosed "in utero". The radiography of the fetus in the uterus showed bony abnormalities suggestive of Porak and Durante's disease. This early diagnosis is often useful because it will help to prevent trauma before and during delivery which is a principal cause of fetal death.

[Osteoporosis in congenital disorders].

Osteogenesis imperfecta (OI) is the most prevalent osteoporosis syndrome in childhood and is characterized by fractures and skeletal deformities. In almost all individuals, OI results from mutations in one of the two genes (COL1A1 and COL1A2) that encode the chains of type I collagen. OI can be divided into four major groups, type I, II, III, and IV, that differ in clinical presentation, mode of inheritance, radiographic picture, and, for the most part, the biochemical basis of the connective disorder. The molecular basis of OI is mainly discussed.