Atypical Hurler syndrome without alpha-L-iduronidase deficiency.
Three atypical patients with clinical and laboratory findings of Hurler syndrome, but without alpha-L-iduronidase deficiency, are described. Clinical features included characteristic facies, mental retardation, corneal clouding, dysostosis multiplex, restriction of joint mobility, and hepatosplenomegaly. Excessive amounts of chondroitin sulfate B and heparitin sulfate were excreted in the urine. alpha-L-Iduronidase activities in leucocytes and liver tissues were within the normal range or somewhat elevated. (+info)
Painful nonunion after triple pelvic osteotomy. Report of five cases.
Tonnis triple pelvic osteotomy is an accepted technique to correct acetabular dysplasia and degenerative labral pathology. A series of 409 consecutive patients who underwent a triple pelvic osteotomy between 1987 and 1999 were followed for a mean of 7.1 years (2 to 15). Five patients (1.2%), all women, developed a double nonunion and required revision, which involved excision of the pseudarthrosis, autologous bone grafting and osteosynthesis with screws or reconstruction plates. Bony healing was achieved in all after a mean of 7.8 months. (+info)
An atypical form of mucolipidosis III.
We report two sibs showing a very mild form of mucolipidosis III with no clinical signs but isolated involvement of the hip and very mild abnormalities of the spine. This indicates that a storage disease, in particular mucolipidosis III, should be considered in any case of isolated bilateral hip dysplasia. The differences from other reported atypical variants of mucolipidosis III are discussed. (+info)
Weight loss: a determinant of hip bone loss in older men and women. The Rancho Bernardo Study.
The sex-specific effect of weight change on change in total hip bone mineral density was evaluated over 4 years (1992-1996) in 1,214 community-dwelling adults whose mean age at baseline was 71 years. Weight and bone mineral density (by dual-energy x-ray absorptiometry) were assessed at two study visits. The average bone loss was 0.5% per year in both sexes; 29% of men and 28% of women lost at least 1% of bone mineral density per year. More than one in five participants lost at least 1% of their body weight per year (21% of men and 23% of women). These weight losers were twice as likely as others to lose bone at the rate of at least 1% per year. In analyses controlling for age, baseline weight, and lifestyle, weight loss was the strongest independent predictor of bone loss (odds ratios were 1.53 for men and 1.56 for women). Persons with weight loss of at least 1% per year were more likely to report fair or poor health and functional limitation at the second visit and to die within 2 years of the second visit; however, most did not report declining health, and most survived for at least 2 additional years. (+info)
Internal iliac artery injury in a fractured pelvis.
This is a case of an 8 year-old boy who suffered a severe road traffic accident (RTA) with multiple fractures of the pelvis and right femur together with rupture of the urethra. After initial stabilization, he presented one month later with a large pseudoaneurysm of the left internal iliac artery. The patient underwent successful laparotomy, evacuation of the hematoma and ligation of the injured internal iliac artery. (Ann Thorac Cardiovasc Surg 2003; 9: 337-9) (+info)
Quantitative anatomic characterisation of the pelvic brim to facilitate internal fixation through an anterior approach.
PURPOSE: To define the centre of the hip joint and the bone stock around the hip joint from the supra-acetabular portion or pelvic brim so as to avoid penetration of guidewire into the hip joint when performing internal fixation using the anterior approach. METHODS: A total of 42 cadavers were utilised. Measurements were completed before and after cutting the pelvis into 4 pieces. Before cutting the pelvis, the centre of the hip joint was measured on the pelvic brim. After cutting the pelvis, the bone stock around the hip joint was measured in each section. The pelvic brim and the anteroinferior iliac spine were utilised as guide points in the measurements, because these parameters could be determined during an anterior surgical procedure. RESULTS: On the pelvic brim, the reflected centre of the hip joint centre was located approximately 3.2 mm anterior to the distal edge of the anteroinferior iliac spine. The mean minimum bone stock of the pelvic brim was 14.0 mm in the centre of the hip joint section. CONCLUSION: This study described the anatomical reference points around the hip joint, and the ways in which they can be utilised to increase the safety of the anterior approach for internal fixation. It is important to define the centre of the hip joint from the supra-acetabular portion or pelvic brim, given that it is not visualised during surgery using an anterior approach. (+info)
Self reported non-vertebral fractures in rheumatoid arthritis and population based controls: incidence and relationship with bone mineral density and clinical variables.
OBJECTIVE: To compare the incidence of self reported non-vertebral fractures after RA diagnosis between female patients with RA and control subjects, and to explore possible associations between non-vertebral fractures and bone mineral density (BMD), disease, and demographic factors. METHODS: 249 women (mean age 63.0 years) recruited from a county register of patients with RA and population controls (n = 249) randomly selected after matching for age, sex, and residential area were studied. Data on previous non-vertebral fractures were obtained from a detailed questionnaire, and BMD was measured at the hip and spine. RESULTS: 53 (21.3%) patients with RA had had 67 fractures after RA diagnosis, the corresponding numbers for controls were 50 (20.1%) and 60 (odds ratio (OR) for paired variables for overall fracture history 1.09, 95% CI 0.67 to 1.77). The overall fracture rates per 100 patient-years were 1.62 and 1.45, respectively, but self reported hip fractures were increased in RA (10 v 2, OR 9.0, 95% CI 1.2 to 394.5). Patients with a positive fracture history had longer disease duration, were more likely to have at least one deformed joint, and had lower age and weight adjusted BMD than those with no fracture history. In logistic regression analysis, fracture history was independently related to BMD only. CONCLUSIONS: With the probable exception of hip fractures, non-vertebral fractures do not seem to be a substantial burden in RA. Similar independent relationships between levels of BMD and fracture history were found in patients with RA and in population based controls. (+info)
Mutations in the human TBX4 gene cause small patella syndrome.
Small patella syndrome (SPS) is an autosomal-dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. We identified an SPS critical region of 5.6 cM on chromosome 17q22 by haplotype analysis. Putative loss-of-function mutations were found in a positional gene encoding T-box protein 4 (TBX4) in six families with SPS. TBX4 encodes a transcription factor with a strongly conserved DNA-binding T-box domain that is known to play a crucial role in lower limb development in chickens and mice. The present identification of heterozygous TBX4 mutations in SPS patients, together with the similar skeletal phenotype of animals lacking Tbx4, establish the importance of TBX4 in the developmental pathways of the lower limbs and the pelvis in humans. (+info)