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At least 1,135 records · Page 63Linked to original sources
PubMed1991

Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature.

We describe 7 cases of cartilage hair hypoplasia (CHH) with emphasis on the clinical and immunological aspects. The literature on CHH is reviewed and symptoms in 63 non-Amish cases are summarized. In this autosomal recessive disorder the immunodeficiency, hair abnormalities, and severity of skeletal involvement show extremely variable expressivity, between and within families. Two of the 3 sib-pairs among our cases demonstrate the great difference in expression within one family. At adult age roentgenological abnormalities can be very mild, or even absent. An impairment in cell-mediated immunity is present in all of our cases and seems a consistent manifestation in CHH; however, sometimes it is very subtle and without clinical symptoms.

Abnormalities, Multiple↗
PubMed1993

Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna.

Skeletal material in the Museum of Pathological Anatomy, Vienna, has been appraised in order to modify existing descriptive designations and to establish diagnoses of specific genetic disorders. In this way osseous material relating to classical genetic syndromes has been identified and will be available for further study. Among the skeletons of adults in the museum, the following genetic conditions could be diagnosed: achondroplasia, Marfan syndrome, cleidocranial dysostosis, and diaphyseal aclasia. In adult sisters with dwarfism and a rickety bone disorder, the final diagnosis was uncertain. Infantile bone dysplasias, genetic conditions involving the skull, and malformation syndromes which are all represented in the museum are currently being analyzed.

Achondroplasia↗
PubMed1994

Regional Proteus syndrome and somatic mosaicism.

We report on a patient with regional manifestations of Proteus syndrome. Major findings included multiple hyperostoses of the calvaria, facial bones, and mandible. Additionally, the patient had a scleral tumor. This lends further support to the hypothesis of somatic mosaicism as a cause of Proteus syndrome. Because mosaic distribution of lesions is variable in extent, criteria for the diagnosis of Proteus syndrome should be loose rather than overly rigid even though patients with limited regional involvement may be particularly difficult to diagnose.

Child↗
PubMed1950

Torus palatinus.

Explore the source record for details and available documents.

Exostoses↗
PubMed1981

Torus mandibularis among Icelanders.

Nine hundred and seventy-six Icelandic schoolchildren (489 male and 487 female) were surveyed for occurrence of torus mandibularis. No sexual dimorphism was observed but there was a statistically significant difference between areas. A highly significant positive association between age and frequency of occurrence and size was also observed. Single tori were more prevalent than multiple ones and also appeared earlier. Symmetrical occurrence predominated, but when unilateral, tori were more often found on the right side. Secular changes in the incidence of torus mandibularis among Icelanders suggest the strong influence of environmental factors.

Adolescent↗
PubMed1985

Porotic hyperostosis: representative of a childhood condition.

Porotic hyperostosis is currently considered to be one of several stress markers available for assessing the health and nutritional status of past human populations. The present study questions one of the basic assumptions underlying its use; that is, that the occurrence of porotic hyperostosis in an individual represents an episode of anemia that was current or had occurred within a relatively short period prior to death. A synthesis of data from a Romano-British site Poundbury Camp, anthropological and clinical studies, and information on bone physiology suggests that lesions of porotic hyperostosis seen in adults are most probably representative of a childhood episode of anemia. Lesions seen in adults are the result of bone changes occurring in the growth period that have not undergone complete remodelling. This viewpoint has implications for future interpretation of data on porotic hyperostosis obtained from skeletal collections.

England↗
PubMed1987

A radiographic study of porotic hyperostosis.

Skull lesions known as porotic hyperostosis have been of interest to researchers since the mid-19th century. The etiology of porotic hyperostosis has long been a matter for speculation yet there has never been complete acceptance or substantiation of any one of the many theories proposed. Today the most widely accepted theory suggests that anemias of either acquired or genetic origin are responsible for porotic hyperostosis. The present study tests this hypothesis using criteria which were chosen after the examination of clinical radiographs of patients with various types of anemia. These criteria are: the presence of "hair-on-end" trabeculation, outer table thinning, texture changes, diploic thickening, orbital roof thickening, orbital rim changes, and the underdevelopment of frontal sinuses. A comparison of these criteria from the clinical X-rays with X-rays of skulls with porotic hyperostosis provides a more rigorous, repeatable, and standardized method upon which to base a diagnosis. This approach enables radiography to provide the necessary link between the clinical and anthropological with which to investigate the origin of porotic hyperostosis.

Anemia↗
PubMed1987

Porotic hyperostosis: new evidence to support the anemia theory.

The etiology of skull lesions known as porotic hyperostosis has long been a matter for speculation. The most widely accepted theory at present suggests that an anemia, either acquired or genetic, is responsible for lesion development. However, acceptance of this theory is not universal and the nature of the relationship between orbital and vault lesions remains a controversial issue. This paper provides a much broader field of supportive evidence on which to base the anemia theory. This involves a synthesis of information from the clinical and anthropological literature as well as new data from two skeletal collections: Poundbury Camp, a Romano-British series, and the Hodgson collection, a 19th century East Asian series. A comparison is made between clinical and anthropological data at the macroscopic, microscopic, radiographic, and demographic levels of analysis. This approach reveals the similarities in expression between clinically diagnosed anemias and porotic hyperostosis.

Anemia↗
PubMed1987

Endemic disease patterns in paleopathology: porotic hyperostosis.

Recent research has shown that constitutional factors can elicit a porotic skeletal lesion pattern related to iron-deficiency anemia, even when adequate dietary iron is available. This study considers the pattern of skeletal involvement under conditions of chronic or endemic dietary stress. Analysis focused on 54 subadults aged 0-10 years at death from the Arroyo Hondo site. Early age of onset is documented in the pattern of coincident active periosteal reactions and porotic lesions under 6 months. Endemically inadequate diets affecting pregnant females and their fetuses, acting synergistically with immediately acquired infections, not weaning diets, are the probable major underlying causes for the early onset of iron-deficiency anemia at Arroyo Hondo.

Anemia, Hypochromic↗
PubMed2003

Association of nitrate use with risk of new radiographic features of hip osteoarthritis in elderly white women: the study of osteoporotic fractures.

OBJECTIVE: To examine the association between nitrate medication use and the development of new radiographic findings of hip osteoarthritis (OA) in elderly women. METHODS: Pelvic radiographs were obtained at baseline and a mean of 8.3 years later in 5,987 women, age > or =65 years at the baseline examination of the Study of Osteoporotic Fractures. Atlas-standardized individual radiographic features (IRFs) of OA were assessed and minimal joint space was measured on paired films. New radiographic findings of hip OA were defined as the development in hips free of these findings at baseline: 1) joint space narrowing (JSN), which consisted of either a MJS < or =1.5 mm or an IRF score indicating lateral JSN > or =2 or medial JSN > or =3; 2) an IRF score for osteophytes of > or =2 in any location; or 3) a summary grade of 2 or more (at least 2 IRFs present). Nitrate use was recorded by interview at years 6 and 8. Logistic and linear regression analyses were performed to determine the association of nitrate use with new radiographic findings of hip OA, adjusting for age, weight, height, bone mineral density, and estrogen. RESULTS: Compared with no reported use of nitrates, we found significant associations between use of nitrates at 1 clinic visit and new JSN (odds ratio [OR] 1.94, 95% confidence interval [95% CI] 1.18-3.17, P = 0.009), new osteophyte formation (OR 1.70, 95% CI 1.03-2.88, P = 0.04), and any new radiographic finding of hip OA or total hip arthroplasty for OA (OR 1.71, 95% CI 1.16-2.52, P = 0.007). Any nitrate use was associated with an increased risk of developing summary grade 3 or greater hip OA (OR 1.84, 95% CI 1.03-3.31, P = 0.041), but not with any other incident findings of OA. CONCLUSION: Older women using nitrates may have an increased risk of developing new radiographic findings of hip OA.

Aged↗
PubMedDate not supplied

Radiographic abnormalities of rheumatoid arthritis in patients with diffuse idiopathic skeletal hyperostosis.

Radiographic abnormalities of rheumatoid arthritis (RA) in 8 patients with diffuse idiopathic skeletal hyperostosis (DISH) included atypical features: lack of osteoporosis, bone sclerosis and proliferation about erosions, osteophytosis, and bony ankylosis. Atypical clinical features included a high incidence of flexion contractures of elbows, wrists, ankles, or knees. It is not surprising that bone production occurs about involved articulations in patients with RA-DISH, as the latter disorder is characterized by bony proliferation at sites of ligament and tendon attachment to bone in the axial and extraaxial skeleton, perhaps related to stress.

Aged↗
PubMed1978

Vertebral ankylosing hyperostosis (Forestier's disease) and HLA antigens in Pima Indians.

Vertebral ankylosing hyperostosis is a common skeletal disorder among Pima Indians. Prevalence rates of approximately 50% have been reported in Pima Indian males aged 44 or older. The HLA-B27 antigen is also found more commonly in Pima Indians than in Caucasians (18% versus 6%). Because of the increased prevalence of both vertebral ankylosing hyperostosis and HLA-B27 in Pima Indians, a possible association between the two was thought to exist. Therefore, histocompatibility testing was done on 44 adult male Pima Indians age 55 or older with classic vertebral ankylosing hyperostosis and 33 age-matched controls. No significant association between any histocompatibility antigen phenotype or haplotype and vertebral ankylosing hyperostosis was found. This disease, therefore, connot be classified with the HLA-B27 associated spondylarthropathies.

Aged↗