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Biomedical subjects

K Kozlowski

Publications and source records attributed to K Kozlowski.

At least 19 recordsLinked to original sources
PubMed1992

New distinct lethal osteosclerotic bone dysplasia (Raine syndrome).

We report a third case of a rare neonatal lethal sclerotic bone disorder with distinct craniofacial anomalies and striking radiographic and hitherto undescribed histopathologic features. The remarkable similarity between our patient and 2 recently reported infants suggests strongly a distinct entity. We propose the term Raine syndrome as a convenient identification of this disorder.

Exophthalmos↗
PubMed1992

Rare malignant mid-femoral tumours in the first decade of life. Report of three cases with short literature review.

The most common femoral shaft tumours in children are eosinophilic granuloma and Ewing's sarcoma. Three children in the first decade of life with rare femoral shaft tumours are reported. There was one osteosarcoma and two chondrosarcomas. Radiographic differential diagnosis of the femoral shaft tumours and microscopic diagnostic difficulties of chondrosarcoma are discussed.

Age Factors↗
PubMed1992

Genochondromatosis II.

We report a new disorder which we have called genochondromatosis II. The disorder is similar in mode of inheritance and long bone changes to that named genochondromatosis but shows some distinctive features, namely involvement of short tubular bones and normal clavicles. The disorder has a benign clinical course and may be discovered incidentally. Accurate diagnosis is important for proper genetic counselling.

Adult↗
PubMed1992

A new syndrome? Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus.

Two strikingly similar twin sisters presented with characteristic facial anomalies and distinctive radiographic findings. The occurrence of this unique pattern of malformations in two sisters with unaffected parents suggests recessive inheritance. They most likely represent a previously unrecognised malformation syndrome.

Abnormalities, Multiple↗
PubMed1992

Juvenile gout with typical radiographic findings.

Gout, a common disorder in adults is exceedingly rare in the first decade of life and uncommon in teenagers. A recent book on bone diseases in childhood does not even mention gout [7]. Childhood podagra with a radiographic findings is a very unusual finding indeed.

Adolescent↗
PubMed1992

Oto-palato-digital syndrome type II. Report of two related cases.

Two cases with major features of bowed long bones, hypertelorism, mandibular hypoplasia and hand and foot abnormalities with early neonatal death due to respiratory failure are presented. The radiologic and clinical findings are in keeping with oto-palato-digital syndrome type II and differ significantly from other causes of bowed long bones such as campomelic and kyphomelic dysplasias.

Abnormalities, Multiple↗
PubMed1992

Spondylometaphyseal dysplasia, Sutcliffe type: a rediscovered entity.

The authors describe two children with spondylometaphyseal dysplasia, Sutcliffe type. This easily recognizable form of bone dysplasia is characterized by coxa vara, minimal metaphyseal changes, oval vertebral bodies and metaphyseal corner fractures later in life. It is probably the most common type of spondylometaphyseal dysplasia. Early diagnosis is important for proper management.

Child↗
PubMed1991

Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases.

We describe 2 patients with bilateral right-angle bowing of femora, absence of fibulae, and reduced, flattened and nail-less toes and symmetrical fingernail deficiency in a consanguineous family of ethnic South Vietnamese Baptists and a non-consanguineous Polish family. These cases are similar to those reported by Fuhrmann et al. (in "Skeletal Dysplasias," New York: Alan R. Liss, Inc., pp 519-524), indicating possible autosomal recessive inheritance of this rare non-lethal limb malformation syndrome.

Abnormalities, Multiple↗
PubMed1991

Lumbar platyspondyly--characteristic sign of Ehlers-Danlos syndrome.

Three patients with Ehlers-Danlos syndrome have been observed to have isolated flattening of the lumbar vertebral bodies. Flattening of the lumbar vertebrae with normal appearance of the rest of the spine may be an important radiological clue to early recognition or confirmation of the diagnosis of Ehlers-Danlos syndrome.

Adolescent↗
PubMed1991

Case report 684. Infantile myofibromatosis.

A 4-year-old boy presented with a mass in the left groin. Radiographic examination demonstrated that the soft-tissue mass contained calcification and was encroaching on the left femur. The pre-biopsy clinico-radiographic diagnosis was that of some sort of sarcoma. The pathological findings identified the mass as infantile myofibromatosis. This case serves to stress the need for greater caution in the clinico-radiographic diagnosis of soft-tissue tumors.

Child, Preschool↗
PubMed1991

Stress fracture of the fibula in the first decade of life. Report of eight cases.

Stress fracture of fibula in athletes and ballet dancers is a well recognised entity. Fibular fractures in children in the first decade of life who are not active in sport or ballet dancing are not well known and often diagnosed as osteomyelitis or malignant bone tumour. This misdiagnosis may be followed by CT, nuclear scan or MR. All these investigations are not necessary and biopsy if performed might even be misleading. The plain X-rays show diagnostic radiographic findings and a misdiagnosis is highly unlikely especially when they are evaluated in the context of clinical findings.

Bone Neoplasms↗