Chronic alcohol use has been associated with impaired pulmonary function, increased risk of pneumonia and poor outcomes after trauma. With a high incidence of rib fractures in this population, the clinical and physiological factors associated with alcohol dependence may influence how these patients recover from thoracic injuries. Therefore, the aim of the systematic review was to examine the effect of alcohol dependence on rib fracture outcomes.
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View Article and Find Full Text PDFOsteocraniostenosis is a severe skeletal dysplasia characterized by a hypomineralized skull that has been previously described as kleeblattschädel (cloverleaf skull) and overtubulated long bones. Dysmorphic facial features include a short nose, short philtrum, and a small, inverted V-shaped mouth. Splenic a/hypoplasia is a constant finding.
View Article and Find Full Text PDFSchmid metaphyseal chondrodysplasia (Schmid MCD, MIM 156500) is caused by mutations in the COL10A1 gene and is clinically characterized by short stature, bowed legs, and a waddling gait. Radiographic findings include anterior cupping, sclerosis and splaying of the ribs, diffuse metaphyseal flaring, and irregularity that is most pronounced at the knees, coxa vara, and femoral bowing. We reviewed the radiographs of Schmid MCD patients at the International Skeletal Dysplasia Registry in Los Angeles for evidence of hand involvement.
View Article and Find Full Text PDFOccipital projections of the cranium have been reported in a number of skeletal dysplasias and syndromes. We observed two cases of atelosteogenesis type I with a bony occipital projection. This finding has neither been noted nor reported in any form of atelosteogenesis.
View Article and Find Full Text PDFRadiological features of 35 patients with the diagnosis of Desbuquois dysplasia were analyzed. The diagnosis of Desbuquois dysplasia was based on the association of specific facial alterations, markedly short stature of prenatal onset, joint laxity, "Swedish key" appearance of the proximal femur, and advanced carpal and tarsal bone age. Patients were divided into two groups, depending on whether or not typical hands with an extra ossification center distal to the second metacarpal and/or a delta phalanx of the thumb were present (group 1, 46%) or absent (group 2, 54%).
View Article and Find Full Text PDFBackground: Punctate or stippled cartilaginous calcifications are associated with many conditions, including chromosomal, infectious, endocrine, and teratogenic etiologies. Some of these conditions are clinically mild, while others are lethal. Accurate diagnosis can prove instrumental in clinical management and in genetic counseling.
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