Biomedical subjects
Publications and source records attributed to K Kozlowski.
A 7-week-old infant who probably had congenital histiocytosis X of the Letterer-Siwe type, and who showed mesomelic involvement of the long bones, is reported. Although skeletal changes are common in histiocytosis of the Letterer-Siwe type, very early appearance and localisation of these changes is unusual.
A girl with chondrodysplasia punctata who showed changes consistent with "Unclassified Multiple Malformation Syndrome" at the age of 9 years is presented. The disease could not have been recognised had not the neonatal films been presented.
Five cases of osteosarcoma with rare clinical and/or radiographic findings are reported. A bony neoplasm should be suspected in each case with unexplained local or generalised signs and/or symptoms.
Eleven cases of Brodie's abscess in the first decade of life are presented. Brodie's abscess in the first decade of life usually shows the "Variant type" of X-ray appearances. The X-ray diagnosis is easy if the clinical data is known to the radiologist. The preponderance of Brodie's abscesses in the lower extremities is probably due to trauma.
The first case of osteosarcoma in a 13 year old boy with Rothmund-Thomson syndrome is reported. The association between these two conditions is uncertain.
A ten year old South African girl of mixed ancestry presented with gross facial abnormalities and dwarfism consequent upon a bizarre skeletal dysplasia. The main radiographic features were craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyl. Intelligence was normal and there were no systemic ramifications. The term "osteoglophonic dwarfism" is a succinct and apt designation for this remarkable disorder.
Explore the source record for details and available documents.
Two cases of multiple fractures, one in a newborn with an unclassified bone dysplasia, another in an infant with recurrent fits of unknown etiology are reported. The second case is the youngest in the literature with bilateral slipped capital femoral epiphyses and bilateral femoral neck fractures, secondary to stress injury.
Hyperostosis of the bones of the forearms and lower legs and mild cranial sclerosis were present in five persons in two generations of a South African kindred of mixed ancestry. This disorder, which is clinically innocuous, is inherited as an autosomal dominant trait. Delineation of this disorder to distinguish it from the other inherited sclerosing bone dysplasias permits accurate prognosis and genetic counselling. In view of the unusual anatomical distribution of the abnormalities, the designation "distal osteosclerosis" is proposed for this entity.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Bone changes in a 4 m.o. infant with Menkes' Kinky Hair Syndrome, who also had a skeletal survey as a newborn, are reported. Whereas the late bone changes were diagnostic, the neonatal ones were similar to congenital rubella and cytomegalic virus infection. However the distribution of the metaphyseal changes were different.
Four cases of idiopathic acroosteolysis are reported. The first is a common phalangeal type, the second, the Hozay variety. The third case was diagnosed after a mumps infection, and marked regress of the changes was noted in the following years. The fourth case shows skin changes, periostitis, mild osteosclerosis, and skull changes as well as acroosteolysis.
One sporadic case of the common type of spondylo-metaphyseal dysplasia and three cases of "new varieties" are reported. In the author's opinion spondylo-metaphyseal dysplasias are much more common than generally recognised. Brachyolmie represents spondylo-metaphyseal dysplasia with mild-minimal metaphyseal changes.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Two families with "new" types of spondyloepiphyseal dysplasias are reported. The disease(s) are characterised by spinal changes, capital femoral epiphyseal involvement and minor changes in the first family and shortening of the hands and feet in the second.